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- Chirurgie Viscérale Pédiatrique -
Réponses affichées : 190
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Hypospadias: Surgery and Complications
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AIGRAIN Y, CHEIKHELARD A, LOTTMANN H, LORTAT-JACOB S
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2010 - Horm Res Paediatr 74(3):218-22 |
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The aim of this review is to summarize the various steps of the surgical procedures to treat a hypospadias. Hundreds of procedures have been described but most of them follow the same principles. They include correction of a ventral curvature, the urethroplasty itself and penile skin reconstruction. Most of the affected children may be treated with a one-stage procedure. Each hypospadias surgeon has to know a variety of techniques and tailor the procedure used for each individual child. Complications are frequent after the hypospadias correction. Fistulas are the more frequent of these complications occurring in less than 5% of anterior cases, but up to 50% in posterior cases. Long-term follow-up is mandatory to evaluate the sexual outcome of the adults operated on during childhood for a posterior hypospadias, even if the available data seem reassuring.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Urologie
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Congenital hyperinsulinism
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ARNOUX JB, DE LONLAY P, RIBEIRO MJ, HUSSAIN K, BLANKENSTEIN O, MOHNIKE K, VALAYANNOPOULOS V, ROBERT JJ, RAHIER J, SEMPOUX C, BELLANNE C, VERKARRE V, AIGRAIN Y, JAUBERT F, BRUNELLE F, NIHOUL-FEKETE C
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2010 - Early Hum Dev 86(5):287-294 |
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Congenital hyperinsulinism (CHI or HI) is a condition leading to recurrent hypoglycemia due to an inappropriate insulin secretion by the pancreatic islet beta cells. HI has two main characteristics: a high glucose requirement to correct hypoglycemia and a responsiveness of hypoglycemia to exogenous glucagon. HI is usually isolated but may be rarely part of a genetic syndrome (e.g. Beckwith-Wiedemann syndrome, Sotos syndrome etc.). The severity of HI is evaluated by the glucose administration rate required to maintain normal glycemia and the responsiveness to medical treatment. Neonatal onset HI is usually severe while late onset and syndromic HI are generally responsive to a medical treatment. Glycemia must be maintained within normal ranges to avoid brain damages, initially with glucose administration and glucagon infusion then, once the diagnosis is set, with specific HI treatment. Oral diazoxide is a first line treatment. In case of unresponsiveness to this treatment, somatostatin analogues and calcium antagonists may be added, and further investigations are required for the putative histological diagnosis: pancreatic (18)F-fluoro-l-DOPA PET-CT and molecular analysis. Indeed, focal forms consist of a focal adenomatous hyperplasia of islet cells, and will be cured after a partial pancreatectomy. Diffuse HI involves all the pancreatic beta cells of the whole pancreas. Diffuse HI resistant to medical treatment (octreotide, diazoxide, calcium antagonists and continuous feeding) may require subtotal pancreatectomy which post-operative outcome is unpredictable. The genetics of focal islet-cells hyperplasia associates a paternally inherited mutation of the ABCC8 or the KCNJ11 genes, with a loss of the maternal allele specifically in the hyperplasic islet cells. The genetics of diffuse isolated HI is heterogeneous and may be recessively inherited (ABCC8 and KCNJ11) or dominantly inherited (ABCC8, KCNJ11, GCK, GLUD1, SLC16A1, HNF4A and HADH). Syndromic HI are always diffuse form and the genetics depend on the syndrome. Except for HI due to potassium channel defect (ABCC8 and KCNJ11), most of these HI are sensitive to diazoxide. The main points sum up the management of HI: i) prevention of brain damages by normalizing glycemia and ii) screening for focal HI as they may be definitively cured after a limited pancreatectomy.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Métabolisme, Radiologie Pédiatrique
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[Isolated primary nocturnal enuresis: international evidence based management. Consensus recommendations by French expert group]
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AUBERT D, BERARD E, BLANC JP, LENOIR G, LIARD F, LOTTMANN H
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2010 - Prog Urol 20(5):343-9 |
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OBJECTIVE: The causes and treatment of isolated primary nocturnal enuresis (PNE) are the subject of ongoing controversy. We are proposing consensus practical recommendations, based on a formalised analysis of the literature and validated by a large panel of experts. METHODOLOGY: A task force of six experts based its work on the guide for literature analysis and recommendations and recommendation grading of the French Haute Autorite de Sante (formalized consensus process methodological guidelines) to evaluate the level of scientific proof (grade of 1 to 4) and the strength of the recommendations (grade A, B, C) of the publications on PNE. As a result of this, 223 articles from 2003 on were identified, of which only 127 (57 %) have an evaluable level of proof. This evaluation was then reviewed by a 19-member rating group. Several recommendations, poorly defined by the literature, had to be proposed by a professional agreement resulting from a consultation between the members of the task force and those of the rating group. For its final validation, the document was submitted to a reading group of 21 members working in a wide range of specialist areas and practices but all involved in PNE. RESULTS: The definition of PNE is very specific: intermittent incontinence during sleep, from the age of 5, with no continuous period of continence longer than 6 months, with no other associated symptom, particularly during the day. Its diagnosis is clinical by the exclusion of all other urinary pathologies. Two factors must be identified during the consultation: nocturnal polyuria promoted by excessive fluid intake, inverse secretion of vasopressin, snoring and sleep apnoea. It is sensitive to desmopressin; small bladder capacity evaluated according to a voiding diary and the ICCS formula. It may be associated with diurnal hyperactivity of the detrusor (30 %). It is resistant to desmopressin. Problems associated with PNE are: abnormal arousal threshold, attention deficit hyperactivity disorder (ADHD) (10 %), low self-esteem. The psychological component is not very significant. CONCLUSION: PNE is not psychological in origin. The management of this condition includes: evaluating the intrafamilial tolerance and the child's motivation, evaluating the rate, the volume of urine and wet nights using a diurnal and nocturnal diary; education (sufficient fluid intake at the start of the day, decrease in hyperosmolar intake in the evening, regular and complete urination); specific treatments: desmopressin for polyuric forms (expected success rate of 60-70 %), alarms for forms involving small bladder capacity (expected success rate of 60-80 %); alternative treatments and/or treatments combined with the preceding ones, for refractory forms: oxybutinin, tricyclic antidepressants (risk). Results obtained with hypnosis, psychotherapy, acupuncture, homoeopathy or chiropractic are not currently validated (insufficient level of proof).
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Pédiatrie Générale
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Cure of multifocal panhepatic hepatoblastoma: is liver transplantation always necessary?
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BAERTSCHIGER RM, OZSAHIN H, ROUGEMONT AL, ANOOSHIRAVANI M, RUBBIA-BRANDT L, LE COULTRE C, MAJNO P, WILDHABER BE, MENTHA G, CHARDOT C
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2010 - J Pediatr Surg 45(5):1030-6 |
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PURPOSE: Multifocal panhepatic hepatoblastoma (HB) without extrahepatic disease is generally considered as an indication for total hepatectomy and liver transplantation. However, after initial chemotherapy, downstaging of the tumor sometimes allows complete macroscopic resection by partial hepatectomy. This procedure is no longer recommended because of the risk of persistent viable tumor cells in the hepatic remnant. We report our experience with conservative surgery in such cases. METHOD: Between 2000 and 2005, 4 children were consecutively referred to our unit with multinodular pan-hepatic HBs (classification PRETEXT IV of the International Society of Pediatric Oncology Liver Tumor Study Group SIOPEL). Three of them had extrahepatic disease at diagnosis. All patients were treated according to SIOPEL 3 and 4 protocols. RESULTS: Extrahepatic metastases were still viable in 2 of 3 patients after initial chemotherapy. These patients eventually died of tumor recurrence. In the 2 patients without residual extrahepatic disease, liver tumors had regressed, and complete macroscopic excision of hepatic tumor remnants could be achieved by conservative surgery. These 2 children are alive and well and free of tumor 7 years after diagnosis. CONCLUSIONS: Conservative surgery may be curative in some multinodular PRETEXT IV HB patients, with a good response to preoperative chemotherapy and complete excision of all macroscopic tumor remnants. However, because of the lack of reliable predictors of sterilization of the microscopic disease in the residual liver, with subsequent poor prognosis, total hepatectomy and liver transplantation remain currently recommended in patients with multinodular PRETEXT IV HB without extrahepatic disease, even though some of these children are probably overtreated.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Wandering spleen in children: multicenter retrospective study
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FIQUET-FRANCOIS C, BELOUADAH M, LUDOT H, DEFAUW B, MCHEIK JN, BONNET JP, KANMEGNE CU, WEIL D, COUPRY L, FREMONT B, BECMEUR F, LACREUSE I, MONTUPET P, RAHAL E, BOTTO N, CHEIKHELARD A, SARNACKI S, PETIT T, POLI MEROL ML
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2010 - J Pediatr Surg 45(7):1519-24 |
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Wandering spleen in children is a rare condition. The diagnosis is difficult, and any delay can cause splenic ischemia. An epidemiologic, semiological, and surgical diagnosis questionnaire on incidence of wandering spleen in children was sent to several French surgical teams. We report the results of this multicenter retrospective study. Fourteen cases (6 girls, 8 boys) were reported between 1984 and 2009; the age range varies between 1-day-old and 15 years; 86% were seen in the emergency department. Ninety-three percent had diffuse abdominal pain. For 57% of the cases, it was their first symptomatic episode of this type. No diagnosis was established based on the clinical results alone. All patients had presurgical imaging diagnosis. Open surgery was performed on 64% cases. Forty-three had splenectomy for splenic ischemia. Thirty-six percent had splenopexy, 14% had laparoscopic gastropexy, and 7% had spleen repositioning and regeneration. Complications were noted in 60% of the cases resulting in postsplenopexy splenic ischemia. Early diagnosis and surgery are the best guarantee for spleen preservation. Even if the choice of one technique, splenopexy or gastropexy, can be argued, gastropexy has the advantage of avoiding splenic manipulation and restoring proper physiologic anatomy. When there is no history of abdominal surgery, laparoscopy surgery seems the best procedure.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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A new rat model of prenatal bowel obstruction: development and early assessment
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FOURCADE LM, MOUSSEAU Y, SAUVAT F, KHEN-DUNLOP N, CERF-BENSUSSAN N, SARNACKI S, STURTZ FG
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2010 - J Pediatr Surg 45(3):499-506 |
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PURPOSE: Although intestinal motility disorders often complicate the postoperative surgical management of newborns with congenital intestinal atresia, their pathogenesis remains unclear. Animal models of prenatal intestinal obstruction have been mainly developed in the lamb and the chicken. Despite new insights brought by these models, they have one or more limitations, such as high fetal mortality rates, high costs, long gestation periods, and an insufficient number of fetuses per litter. Moreover, some species are phylogenetically distant from mammals. METHODS: We developed a reproducible model of prenatal intestinal obstruction in the rat to study the histologic changes induced by the obstruction. We report, the technical devices and the first assessment of this atresia model in a didactic way to allow other researchers to easily reproduce the model. RESULTS: Prenatal intestinal obstructions in this study fulfilled all the macroscopic and histologic criteria usually listed by other models of prenatal intestinal obstruction that have been developed in other species. Furthermore with our model, we obtained a high success rate at a low cost. CONCLUSIONS: We presented in this study a reproducible model of prenatal intestinal obstruction in the rat with the macroscopical and histologic features of prenatal intestinal obstruction.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, U989
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Safety of Shock Wave Lithotripsy for Treatment of Pediatric Urolithiasis: 20-Year Experience
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GRIFFIN SJ, MARGARYAN M, ARCHAMBAUD F, SERGENT-ALAOUI A, LOTTMANN HB
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2010 - J Urol 183(6):2332-36 |
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PURPOSE: This retrospective study was designed to assess the impact of shock wave lithotripsy on the pediatric kidney using pretreatment and posttreatment (99m)technetium dimercapto-succinic acid renal scintigram. MATERIALS AND METHODS: A total of 182 patients 5 months to 19.8 years old (mean 5.3 years) were treated for renal calculi with shock wave lithotripsy during a 20-year period. Pretreatment evaluation included clinical assessment, urine culture, renal ultrasound and plain abdominal radiograph with or without excretory urogram. Dimercapto-succinic acid scintigram was performed before and 6 months after completion of treatment in 94 patients (52%). RESULTS: Patients underwent 1 to 4 sessions of shock wave lithotripsy per kidney with at least 1 month between treatments. Median number of shocks delivered per session was 3,000 (IQR 2,601 to 3,005). No new scars were observed on any posttreatment dimercapto-succinic acid scan. Regarding renal function, patients fell into 1 of 4 groups. Group 1 (66 patients, 70%) had normal function on dimercapto-succinic acid scan before and after treatment, group 2 (18, 19%) had decreased function in the affected kidney on pretreatment scan with no change after treatment, group 3 (2, 2%) had impaired function in the treated kidney that was transient (1) or permanent (1) and group 4 (7, 7%) had improved function in the treated kidney. CONCLUSIONS: Shock wave lithotripsy is an effective treatment for renal calculi in children. Renal parenchymal trauma associated with extracorporeal shock wave lithotripsy does not seem to cause long-term alterations in renal function or development of permanent renal scars in children.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009
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HERITIER S, LE MERRER M, JAUBERT F, BIGORRE M, GILLIBERT-YVERT M, DE COURTIVRON B, ZIADE M, BERTRAND Y, CARRIE C, CHASTAGNER P, BOST-BRU C, LEONARD JC, OUACHE M, BOCCON-GIBOD L, MARY P, DE BLIC J, PIN I, WENDLING D, REVILLON Y, HOUDOIN V, FORIN V, LEPOINTE HD, LANGUEPIN J, WAGNON J, EPAUD R, FAUROUX B, DONADIEU J
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2010 - Orphanet J Rare Dis 5(.):3 |
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OBJECTIVE: To document the epidemiological, clinical, histological and radiological characteristics of aggressive vascular abnormalities of bone in children. STUDY DESIGN: Correspondents of the French Society of Childhood Malignancies were asked to notify all cases of aggressive vascular abnormalities of bone diagnosed between January 1988 and September 2009. RESULTS: 21 cases were identified; 62% of the patients were boys. No familial cases were observed, and the disease appeared to be sporadic. Mean age at diagnosis was 8.0 years [0.8-16.9 years]. Median follow-up was 3 years [0.3-17 years]. The main presenting signs were bone fracture (n = 4) and respiratory distress (n = 7), but more indolent onset was observed in 8 cases. Lung involvement, with lymphangiectasies and pleural effusion, was the most frequent form of extraosseous involvement (10/21). Bisphosphonates, alpha interferon and radiotherapy were used as potentially curative treatments. High-dose radiotherapy appeared to be effective on pleural effusion but caused major late sequelae, whereas antiangiogenic drugs like alpha interferon and zoledrenate have had a limited impact on the course of pulmonary complications. The impact of bisphosphonates and alpha interferon on bone lesions was also difficult to assess, owing to insufficient follow-up in most cases, but it was occasionally positive. Six deaths were observed and the overall 10-year mortality rate was about 30%. The prognosis depended mainly on pulmonary and spinal complications. CONCLUSION: Aggressive vascular abnormalities of bone are extremely rare in childhood but are lifethreatening. The impact of anti-angiogenic drugs on pulmonary complications seems to be limited, but they may improve bone lesions.
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Unité(s) :
Anatomie Pathologique, Centre de Génétique Médicale Jean Frézal, Chirurgie Viscérale Pédiatrique, Pneumologie et Asthmologie Pédiatriques
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Renal transplantation in children: Critical analysis of age related surgical complications
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IRTAN S, MAISIN A, BAUDOUIN V, NIVOCHE Y, AZOULAY R, JACQZ-AIGRAIN E, EL GHONEIMI A, AIGRAIN Y
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2010 - Pediatr Transplant 14(4):512-19 |
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Irtan S, Maisin A, Baudouin V, Nivoche Y, Azoulay R, Jacqz-Aigrain E, El Ghoneimi A, Aigrain Y. Renal transplantation in children: Critical analysis of age related surgical complications. Pediatr Transplantation 2010 (c) 2010 John Wiley & Sons A/S. Abstract: To determine age-related risk factors of urological and vascular complications. We performed a retrospective analysis of the data of 202 renal transplantations in 193 children between 1989 and 2007 at a single institution. Out of 193 grafts (combined renal and liver grafts were excluded), we observed urological complications in 42 cases (21.7%) leading to graft loss in one case and vascular complications in 27 cases (13.9%) leading to graft loss in seven. The urological complications were VUR (n = 25, 12.4%), ureteral stricture (n = 10, 5%), anastomotic leak (n = 4, 2%), ureteral necrosis (n = 2, 1%), and incrustative pyelitis (n = 1, 0.5%). Vascular complications were arterial stricture (n = 14, 7.2%), arterial thrombosis (n = 4, 2%), venous thrombosis (n = 2, 1%), and others (n = 7). Donors aged less than six yr were a risk factor of vascular complications leading to graft loss (p = 0.0001), whereas patients with PUV had more urological complications (p = 0.001). Overall patient and graft survival is 93.1% and 84% at five yr, respectively. Surgical complications remain a major cause of graft loss (12%) and morbidity in children's kidney transplantation (38.9%). Young age of donors is the major risk factor of early graft loss as a result of vascular complication. However, donor selection based on age is limited by the shortage of organs.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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[Haemorrhagic shock after severe abdominal trauma in children: knowing when to change from conservative to surgical management]
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JOUFFROY R, BOURDAUD N, CUTTAREE H, SAUVAT F, CARLI P, ORLIAGUET G
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2010 - Ann Fr Anesth Reanim 29(5):387-90 |
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Abdominal vascular injuries following a serious falling out are quite rare in children. They can lead to haemorrhagic shock whose etiological diagnosis may be difficult in children in case of multiple trauma. The current management of abdominal injuries in the child is usually conservative, surgery being indicated in haemodynamically unstable patients. We report the case of a 7-year-old girl who presented with abdominal trauma with rupture of the hepatic artery and shredding of the splenic vein following a falling out of 10 meters. Aggressive resuscitation associated with early laparotomy for haemostasis, contrary to usual practices advocated in such a context, have helped control the hemorrhagic shock and stabilize the haemodynamic status of the child. The subsequent evolution was favourable, with full recovery. While a conservative attitude usually prevails in the management of traumatic intra abdominal bleeding in children an interventional attitude with emergency surgery must be sometimes considered.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Réanimation Pédiatrique & Néonatologie
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CD4+CD25+ T Cells Play a Complex Role in the Pediatric Combined Liver-Intestinal Graft Acceptance
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JUGIE M, BADOUAL C, LE BIHAN C, CANIONI D, SARNACKI S, GOULET O, SAUTES-FRIDMAN C, DAMOTTE D
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2010 - Transplantation 90(1):95-97 |
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Unité(s) :
Anatomie Pathologique, Biostatistique, Chirurgie Viscérale Pédiatrique, Gastro-Hépatologie et Nutrition Pédiatriques
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Portal venous gas and thrombosis complicating superior mesenteric artery syndrome (Wilkie's syndrome) in a child
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ROD J, SARNACKI S, PETIT T, RAVASSE P
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2010 - J. Pediat. Surg. 45(4):826-829 |
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We report a case of a 10-year-old girl presenting with portal venous gas and thrombosis associated with superior mesenteric artery syndrome. To our knowledge, this is the first reported case of superior mesenteric artery syndrome complicated by gastric wall pneumatosis, portal venous gas, and thrombosis in childhood. Although these complications usually lead to bowel resection in adults and result in a high mortality rate, our pediatric patient was successfully treated nonoperatively with intensive care management and jejunal tube feedings. Presence of portal venous gas may occur in superior mesenteric artery syndrome in children and does not necessarily lead to bowel injury, allowing conservative medical management as a first-line treatment.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Chronic Iron-deficiency Anemia Caused by a Jejunojejunal Intussusception on a Solitary Hamartomatous Polyp
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RUBIO A, DE MONTALEMBERT M, VERKARRE V, FUSARO F, EMOND S, OLSCHWANG S, REVILLON Y, RUEMMELE FM
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2010 - J Pediatr Gastroenterol Nutr 50(4):450-52 |
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Pédiatrie Générale, Radiologie Pédiatrique
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Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model
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RUEMMELE FM, MULLER T, SCHIEFERMEIER N, EBNER HL, LECHNER S, PFALLER K, THONI CE, GOULET O, LACAILLE F, SCHMITZ J, COLOMB V, SAUVAT F, REVILLON Y, CANIONI D, BROUSSE N, DE SAINT-BASILE G, LEFEBVRE J, HEINZ-ERIAN P, ENNINGER A, UTERMANN G, HESS MW, JANECKE AR, HUBER LA
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2010 - Hum Mutat 31(5):544-51 |
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Autosomal recessive microvillus inclusion disease (MVID) is characterized by an intractable diarrhea starting within the first few weeks of life. The hallmarks of MVID are a lack of microvilli on the surface of villous enterocytes, occurrence of intracellular vacuoles lined by microvilli (microvillus inclusions) and the cytoplasmic accumulation of periodic acid-Schiff (PAS)-positive vesicles in enterocytes. Recently, we identified mutations in MYO5B, encoding the unconventional type Vb myosin motor protein, in a first cohort of nine MVID patients. In this study, we identified 15 novel nonsense and missense mutations in MYO5B in 11 unrelated MVID patients. Fluorescence microscopy, Western blotting and electron microscopy were applied to analyze the effects of MYO5B siRNA knock-down in polarized, brush border possessing CaCo-2 cells. Loss of surface microvilli, increased formation of microvillus inclusions and subapical enrichment of PAS-positive endomembrane compartments were induced in polarized, filter-grown CaCo-2 cells, following MYO5B knock-down. Our data indicate that MYO5B mutations are a major cause of microvillus inclusion disease and that MYO5B knock-down recapitulates most of the cellular phenotype in vitro, thus independently showing loss of MYO5B function as the cause of microvillus inclusion disease. (c) 2010 Wiley-Liss, Inc.
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Unité(s) :
U989, Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Gastro-Hépatologie et Nutrition Pédiatriques, U768
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[Fertility preservation before puberty: from mice to men]
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SAUVAT F, SARNACKI S, BINART N
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2010 - Ann Endocrinol (Paris) 71(3):231-6 |
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Malignant tumors account for 1% of childhood cancers. The incidence is to the order of 122 cases per million children. The five-year survival after cancer before the age of 16years has improved from 50 to 80% in 40years. Assessment of potential for preservation of fertility should thus be a systematic element of care for children treated for a malignant tumor (high-dose chemotherapy with alkylizing agents, radiation therapy including the gonads) or those receiving hematopoietic stem cell grafts for malignant or benign disease (sickle-cell anemia, immune deficit). Among the techniques proposed, cryopreservation of ovarian tissue appears to be the most promising, or perhaps the only one available before puberty with encouraging result. Nevertheless the uncertainties, or even risks, related to these treatments, should not be neglected.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, U845 (NB)
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Management of Wilms tumors in Drash and Frasier syndromes
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AUBER F, JEANPIERRE C, DENAMUR E, JAUBERT F, SCHLEIERMACHER G, PATTE C, CABROL S, LEVERGER G, NIHOUL-FEKETE C, SARNACKI S
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2009 - Pediatr. Blood Cancer 52(1):55-59 |
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BACKGROUND: Children with WT1 gene-related disorders such as Denys-Drash syndrome (DDS) and Frasier syndrome (FS) are at increased risk of Wilms tumor and end-stage renal disease. We investigated whether Wilms tumors in these patients displayed a specific phenotype or behavior and whether nephron-sparing surgery was beneficial. PROCEDURE: We retrospectively studied all patients with DDS, FS, or other WT1 mutations treated at our institutions between 1980 and 2007. RESULTS: We identified 20 patients, of whom 18 had benign or malignant tumors. Wilms tumors occurred in 15 patients, being unilateral in 10 and bilateral in 5 (20 tumors). Median age at Wilms tumor diagnosis was 9 months. No patients had metastases. According to the International Society of Pediatric Oncology Working Classification, there were 19 intermediate-risk tumors and one high-risk tumor; no tumor was anaplastic. In patients with nephropathy who underwent unilateral nephrectomy for Wilms tumor or nephron-sparing surgery for bilateral Wilms tumor, mean time to dialysis was 11 or 9 months, respectively. Other tumors included three gonadoblastomas (in two patients), one retroperitoneal soft-tissue tumor, and one transitional cell papilloma of the bladder. Two patients, both with stage I Wilms tumor, died from end-stage renal disease-related complications. The median follow-up time for the 18 survivors was 136 months (range, 17-224 months). CONCLUSION: Most Wilms tumors in children with WT1-related disorders were early-stage and intermediate-risk tumors, with a young age at diagnosis. In patients without end-stage renal disease, nephron-sparing surgery should be considered for delaying the onset of renal failure.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, U574
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Keyhole sign: how specific is it for the diagnosis of posterior urethral valves?
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BERNARDES LS, AKSNES G, SAADA J, MASSE V, ELIE C, DUMEZ Y, LORTAT-JACOB SL, BENACHI A
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2009 - Ultrasound Obstet Gynecol 34(4):419-423 |
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OBJECTIVES: Posterior urethral valves (PUV) are the most common cause of renal impairment in boys during early childhood. Although antenatal suspicion of this pathology has become quite common in recent years, prenatal diagnosis remains challenging. The aim of this study was to evaluate the predictive value of different ultrasound criteria currently used to diagnose PUV. METHODS: We reviewed the antenatal and postnatal files of 54 male patients referred to our center from 2000 to 2006 after detection of fetal bilateral hydronephrosis. The following ultrasound criteria were evaluated in relation to the postnatal diagnosis of PUV: amniotic fluid volume, bladder wall thickness, bladder dilatation and the presence of the 'keyhole sign'. RESULTS: Forty-two fetuses (77.8%) were suspected to have PUV on prenatal examination. Out of these, 29 (69.0%) had PUV confirmed postnatally. The sensitivity and specificity of the antenatal diagnosis of PUV were 94% and 43%, respectively. Increased bladder wall thickness and bladder dilatation were highly associated with the diagnosis of PUV (P < 0.001). However, a thick-walled bladder was observed in 39.1% and a dilated bladder in 47.8% of the infants with a postnatal diagnosis other than PUV. The presence of the keyhole sign was not found to predict a diagnosis of PUV (P = 0.27). CONCLUSION: In this series the use of classical prenatal ultrasound signs to diagnose PUV showed high sensitivity but low specificity. The best diagnostic indicators were increased bladder wall thickness and dilatation of the bladder. The keyhole sign was not found to be a reliable predictor of PUV. Copyright (c) 2009 ISUOG. Published by John Wiley & Sons, Ltd.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Biostatistique, Obstétrique
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VIP hypersecretion as primary or secondary syndrome in neuroblastoma: A retrospective study by the Societe Francaise des Cancers de l'Enfant (SFCE)
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BOURDEAUT F, DE CARLI E, TIMSIT S, COZE C, CHASTAGNER P, SARNACKI S, DELATTRE O, PEUCHMAUR M, RUBIE H, MICHON J, NEUROBLASTOMA COMMITTEE OF THE SOCIETE FRANCAISE DES CANCERS ET LEUCEMIES DE L'ENFANT ET DE LA
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2009 - Pediatr Blood Cancer 52(5):585-90 |
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BACKGROUND: Neuroblastic tumors (NTs) are occasionally associated with watery diarrhea, due to Vasoactive Intestinal Peptide (VIP) secretion. Most reports are single cases and suggest a great homogeny within this sub-group of NTs. PROCEDURES: We conducted a retrospective analysis of the French experience of NTs associated with watery diarrhea due to VIP-secretion. VIP secretion was confirmed by seric dosage and/or immunohistochemistry. RESULTS: Twenty-two patients met the diagnostic criteria between 1988 and 2007. Most of patients suffered from weight loss and metabolic disorders. In 16 cases, digestive symptoms preceded the diagnosis of the tumor ("Primary VIP secreting NTs"); 15 were localized and all showed a differentiated histology. Interestingly, in another 6 patients with high-risk NT, diarrhea occurred at the time of chemotherapy or retinoic acid therapy ("Secondary VIP secreting NTs"). Differentiation in response to treatment was documented in 4 cases. In all cases, only surgical excision of the tumor was able to control the digestive symptoms. Twenty children are alive and 13 are disease-free. CONCLUSION: VIP secreting NTs are usually associated with differentiation; they can also secondarily arise from a high-risk tumor upon treatment. Primary surgery constitutes first-line treatment.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, CUDR
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Neonatal bilateral ovarian sex cord stromal tumors
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CAPITO C, FLECHTNER I, THIBAUD E, EMOND S, KALFA N, JAUBERT F, SARNACKI S
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2009 - Pediatr Blood Cancer 52(3):401-3 |
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A child was referred for evaluation after prenatal diagnosis with macrosomia, clitoromegaly, labial hypertrophy, and a left ovarian cyst. The karyotype was 46,XX. The postnatal pelvic ultrasound was normal. High levels of anti-mullerian hormone and testosterone led to a hCG stimulation test, which was followed by isosexual precocious puberty and the appearance of a bilateral ovarian enlargement with a left tumoral mass. A left ovarian tumorectomy revealed a fibrothecoma. Six weeks later, a tumoral relapse occurred and completion of oophorectomy revealed a juvenile granulosa cell tumor (JGCT). Whereas hormonal levels decreased after surgery, a new rise associated with an enlargement of the right ovary led to the diagnosis of right JGCT. A right oophorectomy was proposed to the parents, who declined further surgery. After 2 months, the hormonal levels normalized. This case illustrates the confusing overlap between developmental and neoplastic biology in neonates.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Endocrinologie Pédiatrique et Gynécologie, Radiologie Pédiatrique
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Value of 18F-fluoro-L-dopa PET in the preoperative localization of focal lesions in congenital hyperinsulinism
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CAPITO C, KHEN-DUNLOP N, RIBEIRO MJ, BRUNELLE F, AIGRAIN Y, CRETOLLE C, JAUBERT F, DE LONLAY P, NIHOUL-FEKETE C
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2009 - Radiology 253(1):216-22 |
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PURPOSE: To retrospectively compare fluorine 18 ((18)F) fluoro-L-dopa positron emission tomography (PET) and pancreatic venous sampling (PVS) in the preoperative differentiation of diffuse from focal congenital hyperinsulinism (CHI) and localization of focal lesions. MATERIALS AND METHODS: This study was approved by the institutional ethical committee, and informed consent for the research study was obtained from the parents of all subjects. Fifty-one patients evaluated for focal CHI between January 1, 1995, and January 31, 2008, were included. Thirty five underwent PVS evaluation alone, and 16 underwent a PET evaluation alone. The sensitivity values of each technique for the diagnosis and localization of focal lesions were compared in regard to results of surgery and pathologic analyses. In each patient, perioperative treatment was reviewed, and the presence of postoperative hypoglycemia was assessed as evidence of incomplete resection. Comparisons of the sensitivity values and recurrence rates were performed by using the Fisher exact test in regard to the number of patients. Comparisons of median age, weight, or number of biopsies were performed with a two-tailed unpaired Mann-Whitney U test. A difference with P < .05 was considered significant. RESULTS: For PVS and PET groups, there was no error in differentiating focal from diffuse forms. PVS was not completed in four of 35 patients. In 27 (87%) of 31 patients in whom PVS was completed and 13 (81%) of 16 patients in whom PET was completed, preoperative localization of the focal lesion was in accordance with the surgical findings (P = .7). Although not significant, the number of biopsies performed before discovering the focal lesion was higher in the PET group compared with the PVS group (P = .06). Inadequate localization occurred in two (6%) patients in the PVS group and five (31%) patients in the PET group at initial preoperative imaging study; these patients underwent repeat surgery for residual CHI (P = .03). CONCLUSION: (18)F-fluoro-L-dopa PET is equivalent to PVS in the characterization of CHI but does not provide localization of the lesion as precisely as does PVS.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Pédiatrie Générale, Radiologie Pédiatrique
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Menstrual Retention In a Robert's Uterus
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CAPITO C, SARNACKI S
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2009 - J Pediatr Adolesc Gynecol 22(5):e104-e106 |
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BACKGROUND: Robert's uterus is an asymmetric septate uterus. This malformation is very rare, particularly in the pediatric age group. Radiologic findings could be surprising, but are very specific. We report here a representative case. CASE: A 15-year-old patient complaining of recurrent abdominal cramps consulted the emergency department for evaluation of acute pain. Radiologic studies showed a circular lesion that had developed within the posterior wall of the uterus. The patient underwent surgery for a suspected Robert's uterus and an endometriectomy of the blind cavity was performed. There was no communication between the blind cavity and the ipsilateral fallopian tube. SUMMARY AND CONCLUSION: Pediatric surgeons and gynecologists should be aware of this atypical obstructive Mullerian malformation and its management in order to avoid inappropriate management of these young patients.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Female Epispadias Management: Perineal Urethrocervicoplasty Versus Classical Young-Dees Procedure
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CHEIKHELARD A, AIGRAIN Y, LOTTMANN H, LORTAT-JACOB S
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2009 - J Urol 182(4 (S1)):1807-1812 |
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PURPOSE: We compared the functional results of 1-stage perineal urethrocervicoplasty and vulvoplasty vs the classic Young-Dees procedure for incontinent female epispadias. MATERIALS AND METHODS: We treated 14 female patients with incontinent epispadias between 1997 and 2007, of whom 7 each underwent the Young-Dees procedure until 2004 (group 1) and 1-stage urethrocervicoplasty with vulvoplasty through a perineal subsymphyseal approach (group 2). We retrospectively compared patient age at surgery, bladder capacity, continence outcome and postoperative morbidity. RESULTS: The groups were comparable except for age at procedure. In group 1 vs 2 surgery was performed at a median age of 6 vs 4 years. In groups 1 and 2 median preoperative bladder capacity was 120 and 100 cc, and mean followup was 8 and 2.5 years, respectively. Six group 1 patients achieved continence, including 5 with overnight continence, but 5 required additional surgery to enhance continence or voiding, including pericervical injections of bulking agents (3), cervicotomy or urethral calibration (4) and enterocystoplasty (1). Two patients required long-term clean intermittent catheterization, 4 underwent upper tract dilation postoperatively and 4 had a total of 8 episodes of febrile urinary tract infection. Six group 2 patients were continent, including 3 with overnight continence (p = 1). None required clean intermittent catheterization even temporarily or any additional surgery (p = 0.02). Only 2 patients had a febrile urinary tract infection (p = 0.25). CONCLUSIONS: Reconstructing the bladder neck and urethra via a perineal approach for female epispadias is promising. Surgery may be performed earlier with similar continence results, less postoperative morbidity and less need for additional surgery. Long-term studies are needed to confirm these preliminary results.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Urologie
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WNT/beta-catenin pathway activation in Wilms tumors: A unifying mechanism with multiple entries?
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CORBIN M, DE REYNIES A, RICKMAN DS, BERREBI D, BOCCON-GIBOD L, COHEN-GOGO S, FABRE M, JAUBERT F, FAUSSILLON M, YILMAZ F, SARNACKI S, LANDMAN-PARKER J, PATTE C, SCHLEIERMACHER G, ANTIGNAC C, JEANPIERRE C
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2009 - Genes Chromosomes Cancer 48(9):816-827 |
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Based on characterization of both genomic and expression status of WT1 and CTNNB1 (beta-catenin) in a series of 60 Wilms tumor samples, combined with genome-wide expression profiling of these tumors, normal mature and fetal kidney controls, we show that WT1/beta-catenin expression was a better classifier than WT1/CTNNB1 mutations. We present molecular data supporting that the WNT pathway is involved in both tumor classes, with and without WT1/beta-catenin alterations. In the tumor class with WT1/beta-catenin alterations, we identified overexpression of 14 previously unreported WNT target genes, including TWIST1. We show that the TWIST1 protein was specifically expressed in these tumors, where staining was restricted to the stromal, nuclear beta-catenin positive, component. By comparing the state of the WNT pathway in tumors without WT1/beta-catenin alterations and fetal kidneys we provide evidence that suggests that these tumors have a heightened level of pathway activation. We characterized mutations of the WNT pathway regulator gene WTX in 16% of this tumor class. Moreover, genome-transcriptome correlation analysis allowed us to identify three other WNT pathway regulator genes that could participate in the activation of the WNT pathway: BCL9 (1p36.2), CTNNBIP1 (1p36.2), and CBY1 (22q13.1). These genes thus represent new potential important actors in WT tumorigenesis. (c) 2009 Wiley-Liss, Inc.
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Unité(s) :
Centre de Génétique Médicale Jean Frézal, Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, U574, U781
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Is laparoscopic management suitable for solid pseudo-papillary tumors of the pancreas?
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FAIS PO, CARRICABURU E, SARNACKI S, BERREBI D, ORBACH D, BAUDOIN V, DE LAGAUSIE P
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2009 - Pediatr Surg Int 25(7):617-21 |
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PURPOSE: Solid pseudo-papillary tumors (SPT) are rare pancreatic neoplasms of low-malignant potential occurring mainly in young women. The purpose of this report is to describe our experience with laparoscopic management of these tumors with 4-year follow-up. METHODS: Three children with SPT were admitted to two hospitals in Paris, France, between February 2000 and December 2006. Diagnosis or treatment was carried out using laparoscopic techniques (biopsy and resection in one case and biopsy only in two). Long-term follow-up data were collected. RESULTS: All three patients presented recurrences within 3 years after resection, i.e., disseminated peritoneal recurrence in two patients and local recurrence in one. The two patients with peritoneal recurrences were treated by surgical resection and chemotherapy. The patient with local recurrence could not be treated due to contraindicating local factors. All three patients were alive at the time of this writing. CONCLUSION: This is the first report describing long-term follow-up after laparoscopic management of SPT. All three patients developed recurrences. These poor results contrast sharply with the low risk of local or disseminated recurrence after open laparotomy without chemotherapy that has been considered as the treatment of choice up to now. Recurrences after laparoscopic management may have been due to diffusion of tumor cells caused by gas insufflation especially during biopsy. Laparoscopic biopsy should not be performed in patients presenting SPT.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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[The French-Speaking Pediatric Research Society: In danger of extinction?]
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KHEN-DUNLOP N, CASTANET M, PICARD C, ANDRE N, POUR LA SOCIETE FRANCAISE DE RECHERCHE EN P
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2009 - Arch Pediatr 16(4):313-315 |
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Endocrinologie Pédiatrique et Gynécologie, U550
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Surgical experimental jejunoileal atresia in rat embryo
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KHEN-DUNLOP N, FOURCADE L, SAUVAT F, DE LAMBERT G, VICTOR A, CERF-BENSUSSAN N, SARNACKI S
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2009 - J Pediatr Surg 44(9):1725-9 |
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PURPOSE: Jejunoileal atresia represents about 40% of intestinal atresia. After surgical repair, intestinal motility disorders are burdened with the postoperative outcome, and the origin of these troubles remains unclear. To specify the physiopathologic feature of jejunoileal atresia, we developed an experimental surgical model in fetal rat. METHODS: Time-dated pregnant rats were operated on at 18 days of gestational age. Hysterotomy was performed, followed by fetal wall incision. The exteriorization of the bowel loop was obtained by saline injection; the intestine was ligated and returned to the abdominal cavity before incisions were closed. Fetal intestine was excised at day 21, after cesarean delivery. RESULTS: Twenty-one pregnant rats underwent operation with 90% maternal survival rate. Among the 56 fetuses successfully operated on, 49 survived (87%). In fetuses with atresia, the mean birth weight (4.5 +/- 0.6 g) and the mean intestinal length (12.8 +/- 1.3 cm) were significantly lower compared to sham fetuses and controls. CONCLUSION: The rat model offers the advantage of a low-expense mammal model with a wide panel of probes and reagents available for the study of the gut. This model of jejunoileal atresia could be used to study the consequences of prenatal intestinal obstruction on fetal gut.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, U793
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Comparison of two sublingual types of desmopressin in 6-year-old and more children with primary nocturnal enuresis. About an international randomized cross-over study
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LOTTMANN H
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2009 - Prog. Urol. 19(2):132-138 |
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OBJECTIVE: Desmopressin (a structural analogue of hormone arginine-vasopressine) is an effective treatment of primary nocturnal enuresis (PNE). A new oral formulation (oral lyophilisate; Minirinmelt((R))) has recently been developed. The principal objective of this study was to compare the preference of patients for the oral lyophilisate versus tablet. METHODS: This open-label, randomized, cross-over study was undertaken at 26 centres across Europe and included patients with PNE. All were already receiving a stable dose of desmopressin tablets 0,2 or 0,4mg. Two hundred and fourteen patients aged 6 to 15 years were randomised (1:1) to receive the treatment in the order lyophilisate/tablet (n=108) or tablet/lyophilisate (n=106). Each formulation was taken during 3 weeks. RESULTS: Of the patients (intention to treat), 55,2% preferred the oral lyophilisate (p=0,16). Patients less than 12 years (n=153) had a preference for the lyophilisate compared to tablets (60,1%; p=0,015). Efficacy was the same for both formulations in terms of mean incidence of bedwetting episodes per week (treatment difference: -0,08; p=0,33). No serious adverse event was reported. The use was considered to be easy for the two forms (p=0,85). Of patients on the lyophilisate, 94,3% had compliance levels of greater or equal to 80%. CONCLUSIONS: The majority of patients preferred the sublingual lyophilisate. This preference was marked in patients less than 12 years on exploratory analysis. The new formulation of desmopressin requires no water intake and retains similar levels of efficacy and safety than the tablet.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Editorial Comment
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LOTTMANN H
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2009 - J Urol 182(4 S1):1677 |
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Long-term desmopressin response in primary nocturnal enuresis: open-label, multinational study
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LOTTMANN H, BAYDALA L, EGGERT P, KLEIN BM, EVANS J, NORGAARD JP
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2009 - Int. J. Clin. Pract. 63(1):35-45 |
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BACKGROUND: Primary nocturnal enuresis (PNE) is a distressing condition, particularly in severe cases (> or = 3 wet nights/week). A prevalent pathophysiological mechanism, especially in monosymptomatic PNE (PMNE), is commonly believed to be an insufficient increase in night-time release of antidiuretic hormone. Desmopressin, a synthetic analogue of antidiuretic hormone, has been shown to reduce the number of wet nights experienced by PMNE patients in several controlled trials. AIM: This study was performed to evaluate desmopressin treatment in the real-life clinical setting and was a large-scale, 6-month investigation of efficacy and safety in patients with severe PNE. Predictive factors for desmopressin response were also evaluated. A total of 744 children aged 5 years and above from four countries were involved in the study. RESULTS: At baseline, patients had a median of 6 wet nights/week; at 6 months, 41% of patients had experienced > or = 50% reduction in the mean number of wet nights. Long-term desmopressin treatment was consistently well-tolerated across all ages, with 5% of patients experiencing any treatment-related adverse events. The strength of treatment response was associated with nocturnal diuresis (p < 0.0001) and age (p = 0.0167) in logistic regression analyses. Compliance and dosage were also associated with response and more patients experienced > or = 50% reduction in wet nights after 6 months' treatment than earlier in the study, suggesting the value of persistent treatment. CONCLUSION: This study shows that long-term desmopressin treatment in the clinical setting is effective and well-tolerated in PNE patients of 5 years and upwards. Early improvements in bedwetting of any appreciable magnitude may be rewarding, may facilitate compliance and enable good long-term response.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Editorial Comment
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LOTTMANN HB
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2009 - J Urol 182(4 S1):1840 |
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Serous and seromucinous infantile ovarian cystadenomas--a study of 42 cases
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MASSICOT R, ROUSSEAU V, DARWISH AA, SAUVAT F, JAUBERT F, NIHOUL-FEKETE C
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2009 - Eur J Obstet Gynecol Reprod Biol 142(1):64-7 |
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The rarity of infantile ovarian cystadenoma (CA) accounts for the very little knowledge about their behaviour. The aim of this retrospective study is to highlight the modes of presentation and to evaluate the treatments and the recurrence risks of these benign tumours. Relation to adult epithelial ovarian tumours is discussed. The medical records and imaging studies of 42 CA in 31 children less than 16 years of age operated at our institution between 1985 and 2003 were retrospectively evaluated. Mean age of first surgery was 11.5 years. 7/31 girls (22.6%) presented with a bilateral CA, four of them were synchronous. 8/42 (19%) CA were in torsion at surgery, conservative management was possible in four cases. 31/42 (74%) CA were treated conservatively. 4/42 CA recurred 1-3.5 years after complete cyst removal. All were endocervical type CA, there was no intestinal type. The 42 CA were serous in 18/42, mucinous in 23/42 and unqualified in one. Mucinous epithelial cells were often sparse and focal along the cyst wall. Four CA presented with micropapillae in post-pubertal girls. No borderline tumours were observed. Mucinous cystadenomas (MCA) are better described as seromucinous cystadenoma (SMCA) because of the mucinous cells localisation. CA occurs early in life, we surmise that they may need hormonal stimulation to develop micropapillae. Complete removal of these potentially low-grade malignant ovarian tumours precursors is advocated. Conservative surgery is recommended to preserve ovarian function.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique
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Conduite à tenir devant la découverte d’une tumeur abdominale de l’enfant
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SARNACKI S, BRISSE H, SCHLEIERMACHER G, DOZ F
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2009 - Méd. Thérap. Péd. 12(1):29-38 |
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Les tumeurs abdominales de l'enfant sont souvent de découverte fortuite. Leur diagnostic étiologique repose sur une évaluation des données cliniques et radiologiques. Il est avant tout nécessaire de préciser la topographie exacte de la tumeur : rétropéritonéale (rénale ou extra-rénale), intrapéritonéale (hépatique ou extra-hépatique) ou abdomino-pelvienne. Cette localisation qui oriente déjà le diagnostic est au mieux précisée par une échographie puis souvent par une IRM ou un scanner abdomino-pelvien. Les autres explorations sont au mieux menées en centre spécialisé et permettent de poser rapidement le diagnostic étiologique, d'effectuer le bilan d'extension et de caractériser les paramètres biologiques de la tumeur. La prise en charge des tumeurs abdominales de l'enfant est une urgence qui doit être réalisée en concertation pluridisciplinaire, permettant de planifier les prochaines étapes diagnostiques et thérapeutiques.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Preserving fertility in prepubertal children
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SAUVAT F, BINART N, POIROT C, SARNACKI S
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2009 - Horm. Res. 71(Suppl .1):82-86 |
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BACKGROUND: As a result of advances in treatment, almost 80% of children and adolescents who currently receive a diagnosis of cancer become long-term survivors. Potential adverse consequences of treatment include impaired puberty and fertility due to gonadal removal, genital tract injury or damage to germ cells from adjuvant therapy. In recent years, treatment of solid tumors and hematological malignancies has been modified in an attempt to minimize damage to the reproductive system. Simultaneously, advances in assisted reproductive technologies have led to new possibilities for the prevention and treatment of infertility. We review experimental data in animal models and clinical experience in adults and discuss strategies to preserve fertility in prepubertal children. CONCLUSIONS: Fertility preservation should now be considered in children facing cancer treatment that has a high risk of gonadal toxicity including high-dose chemotherapy and bilateral irradiation of the gonads at toxic doses.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, U845 (NB)
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Poor compliance with primary nocturnal enuresis therapy may contribute to insufficient desmopressin response
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VAN HERZEELE C, ALOVA I, EVANS J, EGGERT P, LOTTMANN H, NORGAARD JP, VAN DE WALLE J
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2009 - J Urol 182(4 Suppl):2045-9 |
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PURPOSE: Studies of desmopressin in children with primary nocturnal enuresis show a greater than 90% decrease in wet nights in 20% to 30%, a 50% to less than 90% decrease in 20% to 40% and less than a 50% decrease in up to 60%. Insufficient response to desmopressin is attributable to various factors, including differences in the primary nocturnal enuresis definition, underlying bladder dysfunction and/or desmopressin pharmacokinetic characteristics. However, little attention has been given to poor compliance with therapy as a possible explanatory factor. For a drug with an effect duration limited to the night after administration a high degree of compliance is essential to ensure consistent therapeutic effects. MATERIALS AND METHODS: This was a substudy of an international investigation of treatment for 6 months or less with desmopressin tablets in children with primary nocturnal enuresis. Medication was dispensed at each visit as required and collected at each subsequent visit. Compliance was determined by pill counts by study staff. RESULTS: Compliance data were available on 723 patients. Of the patients 81% to 91% ingested all medication as instructed during the initial run-in phases. However, this decreased to 77% and 71% during the first and second 3-month treatment periods, respectively. CONCLUSIONS: Patient motivation and compliance are generally stronger in clinical trials than in clinical practice. However, this study shows that some patients were poorly compliant with medication even at study initiation and only 71% were fully compliant with long-term treatment. Decreased compliance was associated with a lower response rate. Patients should be encouraged to comply fully with treatment to achieve an optimal outcome.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Neonatal Outcome of Gastroschisis Is Mainly Influenced by Nutritional Management
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WALTER-NICOLET E, ROUSSEAU V, KIEFFER F, FUSARO F, BOURDAUD N, OUCHERIF S, BENACHI A, SARNACKI S, MITANCHEZ D
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2009 - J Pediatr Gastroenterol Nutr 48(5):612-617 |
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OBJECTIVE:: The aim of the study was to evaluate early minimal enteral feeding (MEF) and gradual enteral nutrition increment on neonatal outcome of gastroschisis. PATIENTS AND METHODS:: An intervention group was prospectively assessed and compared with an observational historical control group. The prospective study relied on a new protocol of enteral nutrition. According to the new protocol, MEF was initiated 5 days after bowel reintegration and milk amounts were increased 12 mL/kg/day. In the control group, enteral nutrition was delayed until resolution of postoperative ileus, and increment of feeding was not systematized. RESULTS:: Twenty-two patients were included in the MEF group and compared with 51 control patients. Infants in the control group had lower gestational age (36 vs 35 gestational weeks [GW], P = 0.03) and birth weight (2465 vs 2200 g, P = 0.05). Time to first enteral nutrition (5 vs 11.5 days, P = 0.0005) was significantly shorter in the MEF group. All patients in this group were fully enteral fed at day 60, though 30.4% of patients in the control group still needed parenteral nutrition at day 60 (P = 0.004). Incidence of nosocomial infection was reduced (9% of patients vs 40%, P = 0.016) and hospital stay tended to be shorter in the MEF group (40 vs 54.5 days, P = 0.08). In the univariate analysis, factors influencing the length of parenteral nutrition during the 2 periods were the severity of perivisceritis and new nutritional protocol. In the multivariate analysis, only nutritional protocol was significantly associated with the length of parenteral nutrition (P = 0.038). CONCLUSIONS:: Early MEF and controlled increase of nutritional elements after bowel reintegration significantly improved outcome of gastroschisis in newborns.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Obstétrique
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Preoperative Wilms tumor rupture: a retrospective study of 57 patients
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BRISSE HJ, SCHLEIERMACHER G, SARNACKI S, HELFRE S, PHILIPPE-CHOMETTE P, BOCCON-GIBOD L, PEUCHMAUR M, MOSSERI V, AIGRAIN Y, NEUENSCHWANDER S
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2008 - Cancer 113(1):202-213 |
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BACKGROUND.: According to current International Society of Pediatric Oncology (SIOP) Wilms recommendations, all preoperative tumor ruptures should be classified as stage IIIc. However, to the authors' knowledge, the definition and diagnostic criteria of preoperative rupture have not been defined clearly. METHODS.: The authors performed a retrospective analysis of 57 children with clinical and/or radiologic (computed tomography [CT]) signs of preoperative tumor rupture of a series of 250 patients enrolled in Wilms SIOP protocols at their institution. RESULTS.: Clinical and radiologic signs of preoperative rupture were observed in 39 patients and 55 patients, respectively. The site of rupture on imaging was retroperitoneal only in 48 patients and both retroperitoneal and intraperitoneal in 7 patients. Surgery was performed after chemotherapy in 55 of 57 patients. Peritoneal disease recurrence occurred in 3 of 57 patients, including 2 patients with stage III tumors who had initial intraperitoneal rupture and 1 patient with a stage I tumor. Among the 48 patients who had radiologic signs of retroperitoneal-only rupture, the final pathologic stage was stage III in 22 patients, stage II in 9 patients, and stage I in 17 patients, and no abdominal disease recurrence was observed, although only 23 of 48 patients received flank radiotherapy. The 5-year local control rate was significantly higher in patients who had retroperitoneal-only rupture compared with patients who had intraperitoneal rupture (100% vs 83.3%; standard error, +/-15.2%; P = .0015). CONCLUSIONS.: The use of CT scans significantly increased the number of patients who could be classified with "tumor rupture." Intraperitoneal rupture was diagnosed accurately with CT and was associated with a significant risk of peritoneal disease recurrence. In contrast, patients who have radiologic signs of localized retroperitoneal-only rupture at diagnosis most likely should not be upstaged, and their treatment may be determined according to pathologic stage only. Cancer 2008. (c) 2008 American Cancer Society.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Hyperinsulinism in children
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BRUNELLE F, RIBEIRO M, BODDAERT N, NIHOUL-FEKETE C, JAUBERT F, RAHIER J, DE LONLAY P
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2008 - Bull. Acad. Natl. Méd. 192(1):59-70 |
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Hyperinsulinism is a rare disorder, affecting one in more than 50,000 births. It was initially thought to be due to a diffuse anomaly called nesidioblastosis, but interventional radiology-based studies demonstrated the existence of two separate forms, one difuse and the other focal. These invasive techniques have now been replaced by PET studies with 18F fluorodopa. Focal forms can be cured by surgical removal of the lesion, while the diffuse form can be treated medically or by subtotal resection of the pancreas. Biochemical and genetic studies show that focal and diffuse forms are due to various mutations of chromosome 11.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Métabolisme, Radiologie Pédiatrique
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Lung resection in cystic fibrosis: A survival analysis
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CAMARGOS P, LE BOURGEOIS M, REVILLON Y, TATSUO E, SERMET-GAUDELUS I, SCHEINMANN P, DE BLIC J
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2008 - Pediat. Pulm. 43(1):72-76 |
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Lung resection may be considered for cystic fibrosis (CF) patients showing localized severe chronic atelectasis and/or bronchiectasis. Nonetheless, literature on survival after surgery is scarce. This study was carried out to assess survival time after partial lung resection. Twenty-one CF patients were operated from 1988 to 2003 and were followed until November 30th, 2004. Survival analysis was performed through Kaplan-Meier method. Mean age at resection was 8.09 years (SD 4.40 years) and two-thirds were females. Z-scores for height, weight, and body mass index as well as FEV(1) values showed no statistical significance when comparing values obtained from 2 years before to 2 years after resection. Eleven years after resection, survival probability was 93.8%. Our results suggest that lobectomy or segmentectomy are safe procedures and should be considered in carefully selected patients with unilateral severe symptomatic localized and chronic persistent atelectasis and/or bronchiectasis refractory to conservative management. Pediatr Pulmonol. 2008; 43:72-76. (c) 2007 Wiley-Liss, Inc.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Pédiatrie Générale, Pneumologie et Asthmologie Pédiatriques
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Pitfalls in the diagnosis and management of obstructive uterovaginal duplication: a series of 32 cases
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CAPITO C, ECHAIEB A, LORTAT-JACOB S, THIBAUD E, SARNACKI S, NIHOUL-FEKETE C
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2008 - Pediatrics 122(4):e891-e897 |
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OBJECTIVES: Obstructive uterovaginal duplication is rare and frequently misdiagnosed. The aims of this study were to review all the patients managed for this malformation in our institution, evaluate their long-term outcomes, and discuss the embryologic origin of this malformation. METHODS: From 1984 to 2007, we treated 32 patients for obstructive uterovaginal duplication in our institution. We separated them in 2 groups (prepubertal [n = 8] and pubertal [n = 24]) and analyzed their clinical and radiologic presentations and their treatments. Patients >18 years of age (n = 22) were recontacted. RESULTS: For the prepubertal group, the median age at diagnosis was 6 months. Postnatal ultrasound showed an absent ipsilateral kidney in 6 case subjects, although 4 patients had a prenatal diagnosis of ipsilateral multicystic dysplastic kidney. This renal anomaly was associated with a pelvic sonolucent mass in 3 case subjects, allowing us to prenatally suspect the diagnosis. All of the patients were cured by vaginal approach. For the pubertal group, the median delay of diagnosis after menarche was 9 months. Among patients managed in an emergency setting (n = 11), there were 9 misdiagnoses with inappropriate abdominal surgeries, including 3 hysterectomies of the obstructed hemiuterus. Concerning long-term results, 5 patients were attempting to have children, with successful pregnancies for 4 of them. One patient suffered from infertility attributable to contralateral isthmic stenosis after a hysterectomy of the obstructed hemiuterus. CONCLUSIONS: Obstructive uterovaginal duplication is a benign pathology when properly managed. Therefore, management of abdominal pain in peripubertal girls should include systematic abdominal and gynecologic examinations completed by radiologic pelvic and renal evaluation. Surgical treatment should be performed by vaginal approach to avoid infertility. Concerning the origin of the malformation, the high association of prenatal dysplastic kidneys and postnatal absent kidneys suggests anomalies of both wolffian and mullerian duct development, contrasting with the classic definition of this malformation.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Endocrinologie Pédiatrique et Gynécologie
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Artificial Urinary Sphincter in Children-Voiding or Emptying? An Evaluation of Functional Results in 44 Patients
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CATTI M, LORTAT-JACOB S, MORINEAU M, LOTTMANN H
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2008 - J. Urol. 180(2):690-693 |
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PURPOSE: We evaluated functional results with an artificial urinary sphincter in children and adolescents in terms of complications, continence and voiding ability through followup. MATERIALS AND METHODS: A total of 44 patients (39 males and 5 females, age 8.6 to 29.5 years, median 14) underwent implantation of a pericervical AMS 800trade mark artificial urinary sphincter, primarily for severe urinary incontinence of neuropathic origin, between 1986 and 2005. Of the patients 25 had undergone augmentation cystoplasty previously (8), simultaneously (7) or after implantation (10). Median followup was 5.5 years (range 1 to 18). Complications included dysuria and/or urinary retention (24 cases), worsening of bladder function (13), urethral erosion (2), scrotal erosion (5), mechanical dysfunction (7), infection of the artificial urinary sphincter (2) and accidental puncture of the tubes (2). These complications resulted in 9 removals, 5 deactivations, 6 revisions and 5 total replacements. RESULTS: Of 44 patients 9 (20%) were incontinent after removal of the artificial urinary sphincter. Among the remaining patients 32 (73%) were dry and 3 (7%) were incontinent with a deactivated device. Of the 35 patients with an artificial urinary sphincter in place 17 (48.6%) voided to completion with spontaneous voiding, 9 (25.7%) performed post-void clean intermittent catheterization and 9 (25.7%) emptied exclusively with clean intermittent catheterization. The ability to maintain voiding to completion after implantation was significantly decreased when the artificial urinary sphincter was implanted before puberty (p = 0.0025) or in conjunction with an augmented bladder (p = 0.01). CONCLUSIONS: The artificial urinary sphincter provides a good rate of continence. However, complications are frequent, leading to removal in 20% of the cases. In time only a limited number of patients can empty the bladder without clean intermittent catheterization.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome
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CHEIKHELARD A, MOREL Y, THIBAUD E, LORTAT-JACOB S, JAUBERT F, POLAK M, NIHOUL-FEKETE C
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2008 - J. Urol. 180(4):1496-1501 |
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PURPOSE: Diagnosis and management of the complete androgen insensitivity syndrome have dramatically changed in the last few decades, with earlier diagnosis and the development of molecular biology. Some phenotypic features such as development of wolffian and mullerian remnants have been suggested to be an index of subtle residual androgen activity. Variations of these features clearly exist among patients and may influence treatment. Our aim was to assess the safety of keeping gonads in place for spontaneous puberty in a cohort of patients with genetically proved complete androgen insensitivity syndrome. In parallel to the risks of virilization at puberty and gonadal tumor some additional features, such as need for vaginal surgery, were investigated. MATERIALS AND METHODS: We studied the genotype, phenotype, anatomy of the internal and external genitalia, and clinical outcome of 29 cases of complete androgen insensitivity syndrome, managed by the same team from diagnosis (frequently in early childhood) to adulthood. RESULTS: All patients had a complete female phenotype. A total of 19 different mutations (including 7 unreported) were found. Each family presented with a different mutation. No somatic mosaicism was detected. Vas deferens and epididymis were found in all types of mutations (missense, nonsense and frameshift). Of the patients 23 were postpubertal (19 spontaneously). No postpubertal virilization occurred. Only 1 carcinoma in situ was detected (postpubertally). Vaginal surgery was rarely necessary. CONCLUSIONS: Our data advocate for keeping the gonads in the complete androgen insensitivity syndrome, at least until completion of spontaneous puberty. The risk of virilization at puberty should be ruled out for each androgen receptor mutation before management decisions and genetic counseling. Vaginal surgery should not be indicated as first line treatment.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Endocrinologie Pédiatrique et Gynécologie
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Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation
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CRETOLLE C, PELET A, SANLAVILLE D, ZERAH M, AMIEL J, JAUBERT F, REVILLON Y, BAALA L, MUNNICH A, NIHOUL-FEKETE C, LYONNET S
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2008 - Hum. Mutat. 29(7):903-910 |
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Currarino syndrome (CS) is a rare congenital malformation described in 1981 as the association of three main features: typical sacral malformation (sickle-shaped sacrum or total sacral agenesis below S2), hindgut anomaly, and presacral tumor. In addition to the triad, tethered cord and/or lipoma of the conus are also frequent and must be sought, as they may lead to severe complications if not treated. The HLXB9 gene, located at 7q36, is disease-causing. It encodes the HB9 transcription factor and interacts with DNA through a highly evolutionarily conserved homeodomain early in embryological development. Thus far, 43 different heterozygous mutations have been reported in patients fulfilling CS criteria. Mutation detection rate is about 50%, and reaches 90% in familial cases. Here, we report 23 novel mutations in 26 patients among a series of 50 index cases with CS, and review mutational reports published since the identification of the causative gene. Three cytogenetic anomalies encompassing the HLXB9 gene are described for the first time. Truncating mutations (frameshifts or nonsense mutations) represent 57% of those identified, suggesting that haploinsufficiency is the basis of CS. No obvious genotype-phenotype correlation can be drawn thus far. Genetic heterogeneity is suspected, since at least 19 of the 24 patients without HLXB9 gene mutation harbor subtle phenotypic variations. Hum Mutat 29(7), 903-910, 2008. (c) 2008 Wiley-Liss, Inc.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Neurochirurgie Pédiatrique, U781
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Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism
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DAMAJ L, LE LORCH M, VERKARRE V, WERL C, HUBERT L, NIHOUL-FEKETE C, AIGRAIN Y, DE KEYZER Y, ROMANA SP, BELLANNE-CHANTELOT C, DE LONLAY P, JAUBERT F
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2008 - J. Clin. Endocrinol. Metabol. 93(12):4941-4947 |
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Context: Focal forms of congenital hyperinsulinism are due to a constitutional heterozygous mutation of paternal origin in the ABCC8 gene, more often than the KCNJ11 gene, located in the 11p11 region. This mutation is associated with the loss of the maternally inherited 11p11 to 11p15 region in the lesion. We investigated the possible occurrence of a compensatory duplication of the paternal 11p11-11p15 region. Materials and Methods: A combined immunohistochemistry and fluorescent in situ hybridization (FISH) study on beta-cell interphase nuclei with probes covering two genes located in this region (ABCC8 and CDKN1C genes) was performed in four cases of focal forms of hyperinsulinism. Results: i) beta-cells in the lesions of four cases of focal congenital hyperinsulinism were diploid for chromosomes 11 and 13, and ii) the 11p11 to 11p12 and the 11p14 to 11p15 regions containing ABCC8 and CDKN1C genes respectively were present with two copies. Loss of the maternal allele was confirmed in these focal lesions with microsatellite markers flanking the ABCC8 and CDKN1C genes, while a heterozygous mutation in the ABCC8 gene was inherited from the father. Conclusion: there is a duplication of the paternal allele on chromosome 11 in the focal forms of hyperinsulinism lesion. The paternal isodisomy observed rendered the beta-cells homozygous for ABCC8 mutation and harbored a K channel defect in the lesion similar to that observed in diffuse forms of congenital hyperinsulinism.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Génétique Médicale Pédiatrique, U781
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Experience in the management of eighty-two newborns with congenital diaphragmatic hernia treated with high-frequency oscillatory ventilation and delayed surgery without the use of extracorporeal membrane oxygenation
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DATIN-DORRIERE V, WALTER-NICOLET E, ROUSSEAU V, TAUPIN P, BENACHI A, PARAT S, HUBERT P, REVILLON Y, MITANCHEZ D
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2008 - J. Intensive Care Med. 23(2):128-135 |
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The aim of this study is to analyze neonatal outcome of isolated congenital diaphragmatic hernia and to identify prenatal and postnatal prognosis-related factors. A retrospective single institution series from January 2000 to November 2005 of isolated congenital diaphragmatic hernia neonates was reviewed. Respiratory-care strategy was early high-frequency oscillatory ventilation, nitric oxide in pulmonary hypertension, and delayed surgery after respiratory and hemodynamic stabilization. Survival rate at 1 month was 65.9%. None of the prenatal factors were predictive of neonatal outcome, except an intra-abdominal stomach in left diaphragmatic hernia. Preoperative pulmonary hypertension was more severe in the nonsurvivor group and was predictive of length of ventilation in the survivors. During the first 48 hours of life, the best oxygenation index above 13 and the best PaCO2 above 45 were predictive of poor outcome. When treating isolated congenital diaphragmatic hernia with early high-frequency ventilation and delayed surgery but excluding extracorporeal membrane oxygenation, survival rates compare favorably with other reported series, and the respiratory morbidity is low.
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Unité(s) :
Biostatistique, Chirurgie Viscérale Pédiatrique, Obstétrique, Réanimation Pédiatrique & Néonatologie
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Prenatal diagnosis of dumbbell neuroblastoma
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DELAHAYE S, DOZ F, SONIGO P, SAADA J, MITANCHEZ D, SARNACKI S, BENACHI A
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2008 - Ultrasound Obstet. Gynecol. 31(1):92-95 |
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A neuroblastoma that develops in the sympathetic nodes can infiltrate the intervertebral foramina and invade the spinal canal, leading to spinal cord and nerve root compression and neurological impairment. Dumbbell neuroblastomas are now considered to be unresectable tumors and preoperative chemotherapy is recommended. We report the prenatal diagnosis of a dumbbell neuroblastoma successfully managed through premature delivery followed by immediate chemotherapy. We suggest that delivering prematurely in such cases is only of benefit if chemotherapy can be administered under favorable conditions. Chemotherapy should proceed immediately after delivery in order to reduce the size of the tumoral mass and its effects on the spine. Copyright (c) 2007 ISUOG. Published by John Wiley & Sons, Ltd.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Obstétrique, Radiologie Pédiatrique, Réanimation Pédiatrique & Néonatologie
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Voiding ultrasonography: evaluation of the detection of vesicoureteral reflux based on the review of digital ultrasound clips
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GALLOY MA, GUILLEMIN F, COUTURE A, PRACROS JP, DIDIER F, DUCOU-LE POINTE H, PEFOUBOU Y, AUBERT D, LORTAT-JACOB S, ROEDERER T, CLAUDON M
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2008 - Ultraschall Med. 29(1):53-59 |
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PURPOSE: To evaluate the accuracy of voiding urosonography (VUS) compared to X-ray voiding cystoureterography (VCUG) for the detection and grading of vesicoureteral reflux (VUR) by standardised reading of digital clips obtained from VUS and digital images from VCUG. MATERIALS AND METHODS: Approval by the ethics committee was obtained, and written, informed consent was given. 130 children (94 girls and 36 boys, mean age of 4.4 years) underwent VUS using Levovist (Schering, Germany) prior to VCUG. Digital VUS clips and digital VCUG images were reviewed by two groups of two radiologists. Results were mainly analysed in terms of reno-ureteral units (RUUs). Intra and interobserver reproducibility was estimated by calculation of kappa coefficient. Calculation of sensitivity and specificity of VUS was made in comparison with VCUG. RESULTS: Intraobserver reproducibility was good to moderate for the detection of VUR using VUS (kappa = 0.67 and 0.53 for each reviewer respectively) and good for the grading of reflux (kappa = 0.64 and 0.70). Interobserver reproducibility was excellent for the detection and grading of VUR using VCUG (kappa = 0.89 and 0.91) but good to moderate for VUS (kappa = 0.73 and 0.51). Compared to VCUG, sensitivity and specificity of VUS for the detection of VUR were 62.7 % and 83.4 %. Concordance for grading was moderate, with a higher grading using VUS. CONCLUSION: Real-time evaluation and diagnosis based on the review of VUS digital clips is achievable. However, there is a need for standardisation of digital records if a second reading by another radiologist or consideration by urologists is needed. Recent advances in US technology and the use of second-generation contrast agents would be promising to improve the feasibility, reproducibility and accuracy of the method.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Transcription factors involved in pancreas development are expressed in paediatric solid pseudopapillary tumours
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GALMICHE L, SARNACKI S, VERKARRE V, BOIZET B, DUVILLIE B, FABRE M, JAUBERT F
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2008 - Histopathology 53(3):318-324 |
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Aims: Solid pseudopapillary tumours (SPT) are rare pancreatic tumours, especially in children. The origin of this benign tumour remains unknown. Mutations of beta-catenin, a gene essential for pancreatic development, are constantly found, leading to delocalization of immunohistochemical signals from the cytoplasm to the nuclei of tumour cells. The aim was to report clinical and histological data of eight children with SPT and explore the immunohistochemical expression of pancreatic duodenal homeobox (PDX) 1 and Sox9, known to be crucial for pancreatic development and linked to the beta-catenin cascade. Methods and results: Eight children with features suggestive of SPT underwent surgical resection. Tumours displayed typical histological appearances. One was incompletely resected and recurred. Immunolabelling revealed nuclear location of beta-catenin in all cases and strong cytoplasmic but no nuclear expression of PDX1 or Sox9 in all but one case. Conclusions: The clinical behaviour of SPT in the paediatric population is similar to its adult counterpart. Complete surgical resection is essential. PDX1 and Sox9 proteins are exclusively expressed in the cytoplasmic compartment in SPT, suggesting overexpression of the corresponding genes linked to beta-catenin mutations. These findings favour the hypothesis that SPT originates from transformation of normally quiescent pancreatic stem cells.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, U845 (RS)
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Thoracic deformities in Marfan syndrome
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GLORION C, PANNIER S, ROD J, FUSARO F, PADOVANI JP, REVILLON Y
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2008 - Archives Pédiatrie 15(5):574-578 |
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Traumatologie et Orthopédie Pédiatriques
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Long-term outcome, growth and digestive function in children 2 to 18 years after intestinal transplantation
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LACAILLE F, VASS N, SAUVAT F, CANIONI D, COLOMB V, TALBOTEC C, DE SERRE NP, SALOMON J, HUGOT JP, CEZARD JP, REVILLON Y, RUEMME FM, GOULET O
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OBJECTIVE: Small bowel (SB) transplantation (Tx), long considered a rescue therapy for patients with intestinal failure, is now a well recognised alternative treatment strategy to parental nutrition (PN). In this retrospective study, we analysed graft functions in 31 children after SBTx with a follow-up of 2-18 years (median 7 years). PATIENTS: Twelve children had isolated SBTx, 19 had combined liver-SBTx and 17 received an additional colon graft. Growth, nutritional markers, stool balance studies, endoscopy and graft histology were recorded every 2-3 years post-Tx. RESULTS: All children were weaned from PN after Tx and 26 children remained PN-free. Enteral nutrition was required for 14/31 (45%) patients at 2 years post-Tx. All children had high dietary energy intakes. The degree of steatorrhoea was fairly constant, with fat and energy absorption rates of 84-89%. Growth parameters revealed at transplantation a mean height Z-score of -1.17. After Tx, two-thirds of children had normal growth, whereas in one-third, Z-scores remained lower than -2, concomitant to a delayed puberty. Adult height was normal in 5/6. Endoscopy and histology analyses were normal in asymptomatic patients. Chronic rejection occurred only in non-compliant patients. Five intestinal grafts were removed 2.5-8 years post-Tx for acute or chronic rejection. CONCLUSIONS: This series indicates that long-term intestinal autonomy for up to 18 years is possible in the majority of patients after SBTx. Subnormal energy absorption and moderate steatorrhoea were often compensated for by hyperphagia, allowing normal growth and attainment of adult height. Long-term compliance is an important pre-requisite for long-term graft function.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Gastro-Hépatologie et Nutrition Pédiatriques, Anatomie Pathologique
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Laparoscopic resection of abdominal neuroblastoma
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LECLAIR MD, DE LAGAUSIE P, BECMEUR F, VARLET F, THOMAS C, VALLA JS, PETIT T, PHILIPPE-CHOMETTE P, MURE PY, SARNACKI S, MICHON J, HELOURY Y
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2008 - Ann. Surg. Oncol. 15(1):117-124 |
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BACKGROUND: Since indications for laparoscopic adrenalectomy have progressively expanded to pediatric surgery, preliminary reports have studied the laparoscopic approach for abdominal neuroblastoma (NB). We aimed to report on the indications and the results of laparoscopic resection in a large series of abdominal NBs. METHODS: A retrospective multicenter study included 45 children with abdominal NBs (28 localized, 11 stage 4, 6 stage 4s) and laparoscopic resection of their abdominal primary tumor. Primary site of the tumor was the adrenal gland in 41 cases and retroperitoneal space in 4. The median age at surgery was 12 months (1-122); median tumor size was 37 mm (12-70). Resection was performed through transperitoneal laparoscopy (n = 38) or retroperitoneoscopy (n = 7). RESULTS: Complete macroscopic resection was achieved in 43 of 45 children (96%). The median duration of pneumoperitoneum was 70 min (30-160), and the length of hospital stay was 3 days (2-9). Four procedures (9%) were converted to open surgery, and tumor rupture occurred in three cases. Of the 28 children with localized disease, there was a 96% overall survival (OS) rate after a median follow-up of 28 months (4-94). There was one local relapse in this subgroup, with subsequent complete remission. For the entire 45-children cohort, four children died and three presented a recurrence resulting in OS, disease-free survival, and event-free survival rates of 84% +/- 8.1, 84% +/- 8.2, and 77% +/- 9.1 respectively. CONCLUSION: Laparoscopic resection of abdominal primary allows effective local control of the disease in a wide range of clinical situations of neuroblastoma, with an acceptable morbidity.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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La cystostomie continente en pediatriec
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MOISAN P
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2008 - Soins 728(.):55-56 |
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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How to deal with congenital disorders of sex development in 2008 (DSD]
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NIHOUL-FEKETE C
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2008 - Eur. J. Pediatr. Surg. 18(6):364-367 |
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Emergency management and conservative surgery of ovarian torsion in children: a report of 40 cases
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ROUSSEAU V, MASSICOT R, DARWISH AA, SAUVAT F, EMOND S, THIBAUD E, NIHOUL-FEKETE C
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2008 - J. Pediatr. Adolesc. Gynecol. 21(4):201-206 |
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INTRODUCTION: The authors describe and discuss the clinical and therapeutic features of 40 ovarian torsions (OT) in children with its urgent treatment that has advanced in recent years. MATERIALS AND METHODS: A retrospective study of 40 cases of OT in 38 children under 16 years of age, excluding adnexal torsions in neonates. RESULTS: Abdominal and/or pelvic pain was the presenting symptom ; 8 of these children had pain between 2 to 9 months prior to surgery and 27/40 (67.5%) had associated vomiting. Before the procedure, ultrasound (US) diagnosed 29 ovarian lesions, related to 14 mature teratomas (MTE) and 10 cystadenomas (CA), one association of MTE and CA in the same ovary, 2 functional cysts and 2 malignant neoplasms. 19/40 torsions could benefit from conservative management. Eleven torsions occurred, 10/11 of these ovaries had an increased volume, and 5/11 had US evidence of small subcortical cysts. Three detorsions with incomplete removal of CA were followed by enlargement of the tumor and re-torsion in 2 of them. Five children had bilateral ovarian pathology which led to unilateral ovariectomy, while the other benefited from conservative treatment. CONCLUSIONS: In any girl presenting with abdominal pain, the diagnosis of an ovarian torsion must be considered. US is performed emergently, but only surgery, most often a laparoscopic procedure, assures diagnosis. The treatment of the torsion is an emergency and must be as conservative as possible in order to preserve the ovarian function. Bilateral torsions are not unusual.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Obstétrique, Radiologie Pédiatrique
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Immature Cryopreserved Ovary Restores Puberty and Fertility in Mice without Alteration of Epigenetic Marks
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SAUVAT F, CAPITO C, SARNACKI S, POIROT C, BACHELOT A, MEDURI G, DANDOLO L, BINART N
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2008 - PLoS ONE 3(4):e1972 |
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Background: Progress in oncology could improve survival rate in children, but would probably lead to impaired fertility and puberty. In pre-pubertal girls, the only therapeutic option is the cryopreservation of one ovary. Three births have been reported after reimplantation of cryopreserved mature ovary. Conversely, reimplantation of ovary preserved before puberty (defined as immature ovary) has never been performed in humans. Methodology/Principal Findings: In order to analyze ovarian function, we performed transplantation using fresh or cryopreserved immature grafts in pre-pubertal or adult mice. Puberty as well as cyclic hormonal activity was restored. All follicle populations were present although a significant reduction in follicle density was observed with or without cryopreservation. Although fertility was restored, the graft is of limited life span. Because ex vivo ovary manipulation and cryopreservation procedure, the status of genomic imprinting was investigated. Methylation status of the H19 and Lit1 Imprinting Control Regions in kidney, muscle and tongue of offsprings from grafted mice does not show significant alteration when compared to those of unoperated mice. Conclusions/Significance: These results demonstrate that immature ovarian grafting can restore spontaneous puberty and fertility. However, these data suggest that follicle depletion leads to premature ovarian failure. This study addresses the very important epigenetics issue, and provides valuable information to the study of ovarian transplantation suggesting that these procedures do not perturb normal epigenetics marks. These results are highly relevant to the reimplantation question of immature cortex in women.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, U845 (NB)
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Is Intestinal Transplantation the Future of Children with Definitive Intestinal Insufficiency ?
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SAUVAT F, FUSARO F, LACAILLE F, DUPIC L, BOURDAUD N, COLOMB V, HUGOT JP, AIGRAIN Y, GOULET O, REVILLON Y
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2008 - Eur. J. Pediatr. Surg. 18(6):368-371 |
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Intestinal transplantation (IT) is the newest and most difficult of organ transplantations. The first ever (1987) and the longest surviving (1989) IT were performed in our institution. However, IT still has to demonstrate its benefit to children on long-term parenteral nutrition (PN). We tried to clarify this aspect by looking back at our 13 years' experience. PATIENTS: From 1994 to December 2007, 74 IT were performed in 69 children, 39 with an isolated small bowel (IT), 35 combined with a liver transplant (LITx). The indications were: short bowel syndrome (n = 25), congenital mucosal diseases (n = 22), and motility disorders (n = 22). Median age at transplantation was 5 years (1 - 17 years). Follow-up was 1 to 12 years (median 5 years). RESULTS: Thirty-one children have a functioning graft (42 %), 15/39 IT, 16/35 LITx. They are at home without PN, with a good quality of life. One child is PN-dependent 1.5 years post IT. Post IT, 16 children were detransplanted: 12 early on (1 for mechanical complications, 11 because of resistant rejection; 3 less than 3 years, one 9 years post SBT (chronic rejection). In 2 noncompliant teenagers, PN was reintroduced (one was detransplanted later on). Several years post LITx, 2 children underwent bowel detransplantation due to an acute viral infection complicated with rejection. Twenty-two children died (32 %, 8 IT, 14 LITx), 18 early on from infectious or surgical complications, 4 more than 1 year post IT, 3 after retransplantation (1 in another unit). Bad prognostic factors are multiple previous surgeries, an older age (> 7 y), and chronic intestinal pseudo-obstruction. DISCUSSION: Complications post IT are frequent and life-threatening, especially early on: rejection (IT), infections (LITx). Later on, the rate of complications decreases but remains significant, especially in noncompliant patients. However we describe here a 13-year learning curve; the recent results are encouraging with regard to control of rejection and viral infections. CONCLUSION: Intestinal transplantation is indicated only in selected patients in whom long-term PN cannot be performed safely any more. In every child with intestinal insufficiency, the therapeutic strategy must be discussed early on in order to perform IT at the right time under optimal conditions. IT should evolve from being a "rescue" procedure to becoming a true therapeutic option.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Gastro-Hépatologie et Nutrition Pédiatriques, Réanimation Pédiatrique & Néonatologie
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Intestinal transplantation for total intestinal aganglionosis: a series of 12 consecutive children
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SAUVAT F, GRIMALDI C, LACAILLE F, RUEMMELE F, DUPIC L, BOURDAUD N, FUSARO F, COLOMB V, JAN D, CEZARD JP, AIGRAIN Y, REVILLON Y, GOULET O
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2008 - J. Pediat. Surg. 43(10):1833-1838 |
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BACKGROUND: Management of patients with total intestinal aganglionosis (TIA) is a medical challenge because of their dependency on parenteral nutrition (PN). Intestinal transplantation (ITx) represents the only alternative treatment for patients with irreversible intestinal failure for achieving intestinal autonomy. METHODS: Among 66 patients who underwent ITx in our center, 12 had TIA. They received either isolated ITx (n = 4) or liver-ITx (LITx, n = 8) after 10 to 144 months of total PN. All grafts included the right colon. RESULTS: After a median follow-up of 57 months, the survival rate was 62.5% in the LITx group and 100% in the ITx patients. The graft survival rate was 62.5% in the LITx group and 75% in the ITx group. All the surviving patients were fully weaned from total PN, after a median of 57 days. Pull through of the colon allograft was carried out in all patients. Fecal continence is normal in all but one of the surviving children. CONCLUSION: These results suggest that ITx with colon grafting should be the preferred therapeutic option in TIA. Early referral to a transplantation center after diagnosis of TIA is critical to prevent PN-related cirrhosis and thereby to permit ITx, which is associated with a good survival rate.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Gastro-Hépatologie et Nutrition Pédiatriques
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Rhabdomyosarcoma an ubiquitous pediatric tumour
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VERKARRE V, GALMICHE-ROLLAND L, SARNACKI S, JAUBERT F
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2008 - Arkh. Patol. 70(3):50-53 |
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Rhabdomyosarcoma is the most common soft tissue tumor in children. It occurs everywhere and its prognosis depends on the location and its histological type--embryonic or alveolar. The new immunohistochemical markers desmin and myogenin in combination with molecular biological detection of specific translocations in alveolar rhabdomyosarcoma improved diagnostic capacities. Less aggressive treatment in curable cases reduces the undesirable outcomes of therapy.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique
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Monitoring of blood vessels and tissues by a population of monocytes with patrolling behavior
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AUFFRAY C, FOGG D, GARFA M, ELAIN G, JOIN-LAMBERT O, KAYAL S, SARNACKI S, CUMANO A, LAUVAU G, GEISSMANN F
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2007 - Science 317(5838):666-670 |
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The cellular immune response to tissue damage and infection requires the recruitment of blood leukocytes. This process is mediated through a classical multistep mechanism, which involves transient rolling on the endothelium and recognition of inflammation followed by extravasation. We have shown, by direct examination of blood monocyte functions in vivo, that a subset of monocytes patrols healthy tissues through long-range crawling on the resting endothelium. This patrolling behavior depended on the integrin LFA-1 and the chemokine receptor CX(3)CR1 and was required for rapid tissue invasion at the site of an infection by this "resident" monocyte population, which initiated an early immune response and differentiated into macrophages.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Laboratoire de Microbiologie, U838, IRNEM
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BERTRAND A, ZERAH M, QUELQUEJAY C, ADAMSBAUM C
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2007 - J. Radiol. 88(2):308-310 |
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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BERTRAND A, ZERAH M, QUELQUEJAY C, ADAMSBAUM C
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2007 - J. Radiol. 88(1 Pt.1):85 |
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Long-term outcome of children receiving home parenteral nutrition: a 20-year single-center experience in 302 patients
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COLOMB V, DABBAS-TYAN M, TAUPIN P, TALBOTEC C, REVILLON Y, JAN D, DE POTTER S, GORSKI-COLIN AM, LAMOR M, HERREMAN K, CORRIOL O, LANDAIS P, RICOUR C, GOULET O
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2007 - J. Pediat. Gastroenterol. Nutr. 44(3):347-353 |
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BACKGROUND: More information is needed regarding the prognosis of children receiving home parenteral nutrition (HPN). This article describes 20-year outcome data in children receiving HPN and provides separate profiles for the major pediatric diagnostic subgroups. PATIENTS AND METHODS: This retrospective study included children who started receiving HPN between January 1, 1980, and December 31, 1999, in a single pediatric HPN center. RESULTS: A total of 302 children were recruited, 230 (76%) with primary digestive disorders and 72 (24%) with nonprimary digestive disorders. Median age at HPN onset was 1.5 years. Median duration of HPN was 1.3 years. By January 1, 2000, 54% had weaned from HPN, 26% were still receiving HPN, 16% had died, and 4% had undergone intestinal transplantation. The survival probabilities at 2, 5, 10, and 15 years were 97%, 89%, 81%, and 72%, respectively. The likelihood and cause of death depended on the underlying diagnosis. Nine percent of children with primary digestive disorders died, 24% from their primary disease and 48% from liver disease or sepsis. Children with intractable diarrhea of infancy had the highest mortality rate (25%) and the highest incidence of liver disease (48%; P = 0.0002). Thirty-eight percent of children with primary nondigestive diseases died, 94% from their primary disease and 6% from liver disease or sepsis. CONCLUSIONS: Outcome and survival of children receiving HPN are mainly determined by their underlying diagnosis. Nearly all children with primary digestive disease survive if referred early to an expert center.
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Unité(s) :
Biostatistique, Chirurgie Viscérale Pédiatrique, Gastro-Hépatologie et Nutrition Pédiatriques
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Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism
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CRETOLLE C, SARNACKI S, AMIEL J, GENEVIEVE D, ENCHA-RAZAVI F, ZRELLI S, ZERAH M, NIHOUL-FEKETE C, LYONNET S
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2007 - Amer. J. Med. Genet. A 143A(8):871-874 |
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The most frequent cause of ventriculomegaly is spina bifida when associated with Arnold-Chiari type II malformation. We report on a prenatal diagnosis of severe ventriculomegaly in association with spinal dysraphism that was indicative of a Currarino syndrome (CS) due to a c.584delA, p.H195fsX28 truncated mutation within the HLXB9 gene. Physiopathology of the ventriculomegaly is discussed in reference to the fetopathological examination and CS embryopathology. In the present case, prognosis was poor and pregnancy termination was authorized. However, such a decision may be controversial in fetuses with less severe malformations on sonographic examination, since mutations in the HLXB9 gene can predict neither the severity nor the long-term prognosis of the disease. Due to a lack of genotype-phenotype correlation and the broad variability of phenotype in heterozygotes, clinical and genetic investigations among relatives are mandatory in all HLXB9 gene mutation cases, to detect asymptomatic CS cases and to prevent the occurrence of severe complications. (c) 2007 Wiley-Liss, Inc.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, U781, Génétique Médicale Pédiatrique, Histo-Embryologie - Cytogénét
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Neonatal hyperinsulinism: clinicopathologic correlation
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DE LONLAY P, SIMON A, GALMICHE-ROLLAND L, GIURGEA I, VERKARRE V, AIGRAIN Y, SANTIAGO-RIBEIRO MJ, POLAK M, ROBERT JJ, BELLANNE-CHANTELOT C, BRUNELLE F, NIHOUL-FEKETE C, JAUBERT F
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2007 - Hum. Pathol. 38(3):387-399 |
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Neonatal hyperinsulinism is a life-threatening disease that, when treated by total pancreatectomy, leads to diabetes and pancreatic insufficiency. A more conservative approach is now possible since the separation of the disease into a nonrecurring focal form, which is cured by partial surgery, and a diffuse form, which necessitates total pancreas removal only in cases of medical treatment failure. The pathogenesis of the disease is now divided into K-channel disease (hyperinsulinemic hypoglycemia, familial [HHF] 1 and 2), which can mandate surgery, and other metabolic causes, HHF 3 to 6, which are treated medically in most patients. The diffuse form is inherited as a recessive gene on chromosome 11, whereas most cases of the focal form are caused by a sulfonylurea receptor 1 defect inherited from the father, which is associated with a loss of heterozygosity on the corresponding part of the mother's chromosome 11. The rare bifocal forms result from a maternal loss of heterozygosity specific to each focus. Paternal disomy of chromosome 11 is a rare cause of a condition similar to Beckwith-Wiedemann syndrome. A preoperative PET scan with fluorodihydroxyphenylalanine and perioperative frozen-section confirmation are the types of studies done before surgery when needed. Adult variants of the disease are less well defined at the present time.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Métabolisme, Radiologie Pédiatrique, Endocrinologie Pédiatrique et Gynécologie, Anatomie Pathologique, Diabétologie Pédiatrique
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Currarino syndrome as an etiology of a neonatal Escherichia coli meningitis
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FLEURY J, PICHEROT G, CRETOLLE C, PODEVIN G, DAVID A, CAILLON J, ROZE JC, GRAS LE GUEN C
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2007 - J. Perinatol. 27(9):589-591 |
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We report the case of a 29-day-old baby girl in whom Escherichia coli meningitis led to the diagnosis of Currarino syndrome (CS) (OMIM 176450), an autosomal-dominant genetic disorder associated with sacral agenesis, anorectal malformation, presacral masses and spinal cord malformations. Her condition improved with antibiotics and early surgical treatment. A familial study identified other genetically related individuals with similar symptoms.Journal of Perinatology (2007) 27, 589-591. doi:10.1038/sj.jp.7211783.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, U781
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An overview of isolated and syndromic oesophageal atresia
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GENEVIEVE D, DE PONTUAL L, AMIEL J, SARNACKI S, LYONNET S
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2007 - Clin. Genet. 71(5):392-399 |
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Oesophageal atresia (OA) and/or tracheo-oesophageal fistula (TOF) are frequent malformations observed in approximately one in 3500 births. OA/TOF can be divided clinically into isolated OA (IOA) and syndromic OA (SOA) when associated with other features, the most frequent being cardiac, limb and vertebral malformations or anal atresia. SOA is observed in 50% of patients and can be subdivided into several causative groups comprising environmental agents, chromosomal disorders, malformative associations (CHARGE syndrome and VATER/VACTERL association), and other multiple congenital anomaly disorders. The observation of chromosomal disorders with SOA, as well as mouse models of OA provide support for the involvement of genetic factors in OA. Yet, epidemiological data (twin and family studies) do not support the major role of genetic factors in the majority of cases of IOA but rather a multifactorial model. However, several genes involved in SOA have been recently identified, namely N-MYC, SOX2, and CHD7 involved in Feingold (MIM 164280), anophthalmia-oesophageal-genital (MIM 600992) and CHARGE syndromes respectively (MIM 214800), suggesting that OA/TOF, at least in their syndromic forms, may be a highly genetically heterogeneous group.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Génétique Médicale Pédiatrique, U781
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Intestinal transplantation: current improvements and perspectives
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GOULET O, SAUVAT F
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2007 - Curr. Opin. Organ Transpl. 12(3):265-270 |
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Purpose of review: This review summarizes the most recent relevant knowledge in clinical practice in the field of intestinal transplantation. Recent findings: Three important factors that have allowed improving results during the last few years are reviewed here. The first relates to the development of a different approach to tackle the underlying cause of intestinal failure and to the patient's characteristics in terms of liver function, age, and body size. The second involves immune modulation and especially the immunosuppressive regimen at induction. The third refers to posttransplantation monitoring, in particular the diagnosis and treatment of intestinal graft rejection and lymphoproliferative disorders. Patient status and referral for intestinal transplantation remain debated. The Intestinal Transplant Registry and a report from an individual program have demonstrated the relationship between a patient's pretransplant status and outcome. Candidacy for intestinal transplantation was analysed in a European survey of home parenteral nutrition patients. Early referral and listing are important for successful outcomes after intestinal grafting. Summary : Patient management should include therapies adapted to each stage of intestinal failure based on a multidisciplinary approach in centers involving surgery, gastroenterology, parenteral nutrition expertise, home parenteral nutrition programs, and liver-intestinal transplantation experience. Timing for referral of patients in specialized centers remains a crucial issue.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Gastro-Hépatologie et Nutrition Pédiatriques
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Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development
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HUGHES IA, NIHOUL-FEKETE C, THOMAS B, COHEN-KETTENIS PT
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2007 - Best Pract. Res. Clin. Endocrinol. Metab. 21(3):351-365 |
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Ambiguous genitalia of the newborn is the paradigm of a disorder of sex development that demands a multidisciplinary team approach to management. The problem is immediately apparent at birth. Abnormalities of the external genitalia sufficient to warrant genetic and endocrine studies occur in one in 4500 births. In recent decades there have been improvements in diagnosis and early management, particularly with respect to congenital adrenal hyperplasia, the commonest cause of ambiguous genitalia of the newborn. However, dissatisfaction with overall management remains. A Clinical Guidelines and Handbook for Parents generated by a partnership of health professionals and support groups is available on the internet. The professional societies representing paediatric endocrinology responded by organizing a consensus meeting on the management of intersex. This resulted in the publication of a Consensus Statement encompassing many aspects of management, extending from birth to adulthood.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Rokitansky syndrome: clinical experience and results of sigmoid vaginoplasty in 23 young girls
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KHEN-DUNLOP N, LORTAT-JACOB S, THIBAUD E, CLEMENT-ZIZA M, LYONNET S, NIHOUL-FEKETE C
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2007 - J. Urol. 177(3):1107-1111 |
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PURPOSE: The Mayer-Rokitansky-Kuster-Hauser syndrome (Rokitansky syndrome) is a frequently misdiagnosed congenital anomaly of the female genital tract. Of several surgical treatments sigmoid vaginoplasty is among the few that provide a functional self-lubricating neovagina. We evaluated the results of sigmoid neovagina in girls affected by the Rokitansky syndrome. MATERIALS AND METHODS: We followed 26 patients with the Rokitansky syndrome between 1990 and 2005. Diagnosis was based on clinical examination, normal ovarian hormones and pelvic ultrasound or magnetic resonance imaging. Associated anomalies were detailed. Vaginoplasty was performed in 23 patients. Functional results and complications were assessed. RESULTS: Renal anomalies were found in 11 patients (42%) and skeletal anomalies in 6 (23%). Six girls (23%) had a family history of the Rokitansky syndrome and/or renal agenesis. Vaginoplasty was performed at a mean age of 16 years (range 10.3 to 18.8). Median postoperative followup was 3.4 years. Postoperative complications included lower extremity compartment syndrome (1 patient), pelvic hematoma (1), mucosal prolapse (2), cystitis (2) and introital stenosis (1). Of the 23 patients undergoing surgery 9 (39%) had an active sex life postoperatively. CONCLUSIONS: Sigmoid vaginoplasty is a valuable procedure in girls with the Rokitansky syndrome. We recommend reconstruction during adolescence because the local conditions are excellent and it allows adaptation of the anatomy to physical development.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Génétique Médicale Pédiatrique
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A randomised comparison of oral desmopressin lyophilisate (MELT) and tablet formulations in children and adolescents with primary nocturnal enuresis
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LOTTMANN H, FROELING F, ALLOUSSI S, EL-RADHI AS, RITTIG S, RIIS A, PERSSON BE
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2007 - Int. J. Clin. Pract. 61(9):1454-1460 |
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Aims: Desmopressin is a useful treatment for primary nocturnal enuresis (PNE), a common childhood condition that can persist into adolescence. This open-label, randomised, cross-over study evaluated the preference of children and adolescents with PNE for sublingual desmopressin oral lyophilisate (MELT) vs. tablet treatment, and the efficacy, safety, compliance and ease of use associated with each formulation. In total, 221 patients aged 5-15 years who were already receiving desmopressin tablets were randomised 1 : 1 to receive desmopressin treatment in the order MELT/tablet (n = 110) or tablet/MELT (n = 111) for 3 weeks each. Each formulation was administered in bioequivalent doses (0.2/0.4 mg tablets identical with 120/240 mug MELT). Following treatment, patients were questioned regarding treatment preference. Diary card data and 100 mm Visual Analogue Scale scores were also recorded. Results: Overall, patients preferred the MELT formulation to the tablet (56% vs. 44%; p = 0.112). This preference was age dependent (p = 0.006); patients aged < 12 years had a statistically significant preference for desmopressin MELT (p = 0.0089). Efficacy was similar for both formulations (MELT: 1.88 +/- 1.94 bedwetting episodes/week; tablet: 1.90 +/- 1.85 episodes/week). Ease of use of both formulations was high. Compliance (>/= 80%) was 94.5% for MELT patients vs. 88.9% for the tablet (p = 0.059). No serious/severe adverse events were reported. Conclusions: There was an overall preference for the MELT, and a statistically significant preference for desmopressin MELT in children aged 5-11 years. Desmopressin MELT had similar levels of efficacy and safety at lower dosing levels than the tablet, and therefore facilitates early initiation of PNE treatment in children aged 5-6 years.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Primary monosymptomatic nocturnal enuresis in children and adolescents
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LOTTMANN HB, ALOVA I
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2007 - Int. J. Clin. Pract. Suppl.(155):8-16 |
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Nocturnal enuresis (NE) is one of the most frequent paediatric pathologies. The prevalence of primary nocturnal enuresis (PNE) is around 9% in children between 5 and 10 years of age and about 40% of them have one or more episodes per week. Still for too long, PNE has not been recognised as a pathological condition, particularly by the medical community; as a consequence, there was no specific education at medical school, and a poor involvement by the practitioners. Enuretic children have a sense of social difference and isolation; some of them do express a low self-esteem. Also, self-esteem is improved by the management NE even if this management fails to cure the condition. Primary monosymptomatic nocturnal enuresis (PMNE) is an heterogeneous condition for which various causative factors have been identified such as: nocturnal polyuria, sleep disturbances, reduced bladder capacity or bladder dysfunction, upper airway obstruction. The positive diagnosis of PMNE is based on a complete questionnaire and a careful physical examination. A drinking and voiding chart is an essential non-invasive tool: first, to collect information about the initial drinking and voiding habits of the child, then to reassess the accuracy of the diagnosis. Only motivated patients should receive a specific treatment for their NE and the treatment should be proposed based on the type of PMNE. PMNE associated with nocturnal polyuria should be treated with desmopressin, which reduces nighttime urine production. For PMNE with a reduced bladder capacity alarms should be the first-line treatment. Oxybutinin, a drug with anticholinergic properties, is not theoretically indicated for the treatment of PMNE except for a very small subgroup of patients who have an overactive bladder only during sleep. In cases refractory to monotherapy, NE is probably the result of an association of different physiopathological factors (e.g. both a nocturnal polyuria together with a small bladder capacity) some of them are still unknown. In these patients, a combination of treatments may be more effective than monotherapy. Various combination therapies can be proposed to improve the cure rates.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report
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MALAN V, GESNY R, MORICHON-DELVALLEZ N, AUBRY MC, BENACHI A, SANLAVILLE D, TURLEAU C, BONNEFONT JP, FEKETE-NIHOUL C, VEKEMANS M
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2007 - Hum. Reprod. 22(4):1037-1041 |
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The phenotypic spectrum of 46,XX/46,XY chimeric patients is variable. It ranges from normal male or female genitalia to different degrees of ambiguous genitalia. Chimerism results from the amalgamation of two different zygotes in a single embryo, whereas mosaicism results from a mitotic error in a single zygote. Several other mechanisms resulting in a chimera have been discussed in the literature. Here, we report on a new case of chimerism (46,XX/46,XY) diagnosed at 17 weeks' gestation on amniocentesis performed because of advanced maternal age. Ultrasound examination revealed normal female external genitalia, and a healthy baby girl was delivered at term. We used polymorphic markers spanning the X chromosome and several autosomes in order to identify the genetic mechanism involved. Mosaicism was excluded because of the presence of 3 alleles at 11 autosomal and 4 X chromosome loci. On autosomes, the origin of this third allele was maternal for two pericentromeric markers (located on 2p11.2 band and 8p11.2 band), paternal for six markers and paternal or maternal for the other three markers. On the X chromosome, the origin of the third allele was maternal for all four markers. Thus, two different paternal and maternal haploid sets were observed. These results are compatible with a tetragametic chimera.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Histo-Embryologie - Cytogénétique, Obstétrique, Génétique Médicale
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Feasibility of ovarian tissue cryopreservation for prepubertal females with cancer
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POIROT CJ, MARTELLI H, GENESTIE C, GOLMARD JL, VALTEAU-COUANET D, HELARDOT P, PACQUEMENT H, SAUVAT F, TABONE MD, PHILIPPE-CHOMETTE P, ESPEROU H, BARUCHEL A, BRUGIERES L
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2007 - Pediatr. Blood Cancer 49(1):74-78 |
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BACKGROUND: Loss of fertility is one of the long-term adverse effects of high-dose chemotherapy or total body irradiation for cancer, even in children. Ovarian tissue cryopreservation (OTC) may make it possible for survivors of childhood cancer to have children. We evaluated the feasibility of this technique for prepubertal girls. METHODS: Between September 2000 and February 2005, 49 prepubertal girls were referred to the Reproductive Biology Unit for OTC before sterilizing treatment. RESULTS: One ovary each was collected from 47 patients, by laparoscopy in 24 patients and laporotomy in the others. In 16 cases, the ovary was harvested during laparotomy to resect a residual abdominal tumor. No complications occurred after operations. Ovarian tissue was frozen by a slow-cooling protocol, using DMSO and sucrose as cryoprotectants. An mean of 17.6 +/- 6.5 ovarian tissue fragments was cryopreserved per patient. Follicle concentration was evaluated histologically for 46 patients and a strong correlation was found between age and follicular density. None of the cases had visible ovarian tumor components. Ovarian cryopreservation was not carried out for two patients. CONCLUSION: The cryopreservation of ovarian tissue could be systematically offered even to prepubertal girls at risk of sterility due to gonadotoxic treatment.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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The added value of [(18)F]fluoro-L: -DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children
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RIBEIRO MJ, BODDAERT N, BELLANNE-CHANTELOT C, BOURGEOIS S, VALAYANNOPOULOS V, DELZESCAUX T, JAUBERT F, NIHOUL-FEKETE C, BRUNELLE F, DE LONLAY P
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2007 - Eur. J. Nucl. Med. Mol. Imag. 34(12):2120-2128 |
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PURPOSE: Neuroendocrine diseases are a heterogeneous group of entities with the ability to take up amine precursors, such as L: -DOPA, and convert them into biogenic amines, such as dopamine. Congenital hyperinsulinism of infancy (HI) is a neuroendocrine disease secondary to either focal adenomatous hyperplasia or a diffuse abnormal pancreatic insulin secretion. While focal hyperinsulinism may be reversed by selective surgical resection, diffuse forms require near-total pancreatectomy when resistant to medical treatment. Here, we report the diagnostic value of PET with [(18)F]fluoro-L: -DOPA in distinguishing focal from diffuse HI. METHODS: Forty-nine children were studied with [(18)F]fluoro-L: -DOPA. A thoraco-abdominal scan was acquired 45-65 min after the injection of 4.2 +/- 1.0 MBq/kg of [(18)F]fluoro-L: -DOPA. Additionally, 12 of the 49 children were submitted to pancreatic venous catheterisation for blood samples (PVS) and 31 were also investigated using MRI. RESULTS: We identified abnormal focal pancreatic uptake of [(18)F]fluoro-L: -DOPA in 15 children, whereas diffuse radiotracer uptake was observed in the pancreatic area in the other 34 patients. In children studied with both PET and PVS, the results were concordant in 11/12 cases. All patients with focal radiotracer uptake and nine of the patients with diffuse pancreatic radiotracer accumulation, unresponsive to medical treatment, were submitted to surgery. In 21 of these 24 patients, the histopathological results confirmed the PET findings. In focal forms, selective surgery was followed by clinical remission without carbohydrate intolerance. CONCLUSION: These data demonstrate that PET with [(18)F]fluoro-L: -DOPA is an accurate non-invasive technique allowing differential diagnosis between focal and diffuse forms of HI.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Radiologie Pédiatrique, Métabolisme, Anatomie Pathologique
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Diagnostic de la constipation chez l'enfant
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SAUVAT F
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2007 - Ann. Nestlé 65(2):63-72 |
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La constipation est un motif fréquent de consultation d'un pédiatre. A titre de symptôme, une constipation peut être due à des etiologies diverses en termes de fréquence, de nature et de gravité. La constipation peut être d'origine médicale ou chirurgicale, ou idiopathique. Les étiologies chirurgicales sont principalement représentées par la maladie de Hirschsprung. Il s'agit du principal diagnostic différentiel même s'il est 50 fois moins fréquent que la constipation idiopathique ou fonctionnelle. Une anamnèse détaillée et un examen clinique, incluant un examen anal, sont les meilleurs moyens de parvenir à un diagnostic. Aucun autre examen n'est nécessaire dans la plupart des cas et toutes les explorations doivent être gérées en fonction des considérations cliniques.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric disease
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SZINNAI G, SARNACKI S, POLAK M
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2007 - Endocr. Dev. 10(.):173-187 |
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Multiple endocrine neoplasia type 2 (MEN 2) is a genetic disorder associated with nearly 100% of lifetime risk of medullary thyroid carcinoma (MTC). MTC is the first tumour of the syndrome to manifest, it shows a nearly 100% penetrance and is the most common cause of death in patients with MEN 2. MEN 2A accounts for over 60-90% of patients with hereditary MTC and is characterized by a combination of MTC, pheochromocytoma and parathyroid adenoma. MEN 2B has a high risk of MTC, pheochromocytoma and includes additional clinical features such as mucosal neuromas, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. Familial MTC, the third subtype of MEN 2, is characterized by MTC in the objective absence of adrenal and parathyroid gland involvement. The identification of the RET proto-oncogene as the susceptibility gene for MEN 2 has fundamentally changed diagnosis and treatment of the disease since 1993. Availability of genetic screening of at-risk children in MEN 2 kindreds made prophylactic thyroidectomy in asymptomatic mutation carriers possible and genotype-phenotype correlations led to codonoriented prophylactic surgery. In this context, MEN 2 has become a disease of the young child.
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Unité(s) :
Chirurgie Viscérale Pédiatrique, Endocrinologie Pédiatrique et Gynécologie
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Coexistence in the same family of both focal and diffuse forms of hyperinsulinism
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VALAYANNOPOULOS V, VAXILLAIRE M, AIGRAIN Y, JAUBERT F, BELLANNE-CHANTELOT C, RIBEIRO MJ, BRUNELLE F, FROGUEL P, ROBERT JJ, POLAK M, NIHOUL-FEKETE C, DE LONLAY P
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2007 - Diabetes Care 30(6):1590-1592 |
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Endocrinologie Pédiatrique et Gynécologie, Métabolisme, Radiologie Pédiatrique, Diabétologie Pédiatrique
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The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery
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VERKAUSKAS G, JAUBERT F, LORTAT-JACOB S, MALAN V, THIBAUD E, NIHOUL-FEKETE C
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2007 - J. Urol. 177(2):726-731 |
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PURPOSE: Little is known about long-term outcomes of conservative gonadal surgery in true hermaphroditism. We present our experience with evaluation and treatment of a large series of children with this rare form of ambiguous genitalia, focusing on gonadal structure and function before and after conservative gonadal surgery. MATERIALS AND METHODS: We retrospectively reviewed 33 consecutive patients with histologically confirmed true hermaphroditism treated at the Hopital des Enfants-Malades between 1965 and 2005. RESULTS: The most common karyotype of true hermaphrodites was 46,XX, constituting 82% of our series. The frequency of finding the SRY gene in 46,XX cases was 35%. Ovotestis was the most frequent finding (65%) and testis the rarest (9%). Ovarian tissue was more often found on the left side, and testicular tissue on the right side (p <0.05). Proper gonadal tissue was preserved in 28 cases. No gonadal tumors were detected during followup. Ovarian tissue remained normal, while testicular tissue gradually developed signs of dysgenesis in all biopsied cases, confirmed by endocrinological studies. However, testosterone production remained satisfactory in the majority of cases during followup. CONCLUSIONS: Diagnosis of true hermaphroditism is well defined and the condition can be recognized even prenatally. Conservative gonadal surgery is the procedure of choice after a diagnosis of true hermaphroditism. Continued followup is necessary because of the multiple psychological, gynecological and urological problems encountered postpubertally by these patients.
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Unité(s) :
Anatomie Pathologique, Chirurgie Viscérale Pédiatrique, Endocrinologie Pédiatrique et Gynécologie, H
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Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder
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VINCI G, CHANTOT-BASTARAUD S, EL HOUATE B, LORTAT-JACOB S, BRAUNER R, MCELREAVEY K
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2007 - Mol. Hum. Reprod. 13(9):685-689 |
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Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. We have previously noted that some cases of 46,XY gonadal dysgenesis carry a 9p deletion and exhibit behavioural problems consistent with autistic spectrum disorder. These cases had a small terminal deletion of 9p with limited or no somatic anomalies that are characteristic of the monosomy 9p syndrome. Here, we present a new case of 46,XY partial gonadal dysgenesis and autistic spectrum disorder associated with a de novo deletion of 9p24 that was detected by ultra-high resolution oligo microarray comparative genomic hybridization. The deletion included the candidate sex-determining genes in the region DMRT1 and DMRT3. These data suggest that a gene responsible for autistic spectrum disorder is located within 9p24. It remains to be determined if the gonadal dysgenesis and autistic spectrum disorder are caused by a single gene or if they are caused by distinct genetic entities at 9p24.
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Unité(s) :
Chirurgie Viscérale Pédiatrique
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Prenatally diagnosed sacrococcygeal teratoma: a prognostic classification
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BENACHI A, DURIN L, MAURER SV, AUBRY MC, PARAT S, HERLICOVIEZ M, NIHOUL-FEKETE C, DUMEZ Y, DOMMERGUES M
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2006 - J. Pediat. Surg. 41(9):1517-1521 |
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PURPOSE: The objective of this study is to describe a prognostic classification for prenatally diagnosed sacrococcygeal teratoma (SCT). METHODS: Charts from 44 fetuses were reviewed. Three groups were defined as follows: group A--tumor diameter less than 10 cm, absent or mild vascularity and slow growth; group B--diameter 10 cm or greater, pronounced vascularity or high-output cardiac failure and fast growth; group C--diameter 10 cm or greater, predominantly cystic lesion with absent or mild vascularity and slow growth. RESULTS: Size at diagnosis, growth rate, and vascularity were higher in group B. Gestational age at delivery was lower in group B. Eleven of 21 died in the perinatal period in group B and none in groups A and C. In group C, drainage or shunting of the SCT has been performed in 6 of 10 cases. CONCLUSIONS: Group A is associated to good maternal and perinatal outcome, as well as group C, although shunting or drainage of the SCT could be necessary. Large fast-growing SCT with rich vascularity is associated with a higher perinatal mortality and morbidity than smaller lesions with mild vascularity.
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Unité(s) :
Obstétrique, Chirurgie Pédiatrique
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New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases)
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CRETOLLE C, ZERAH M, JAUBERT F, SARNACKI S, REVILLON Y, LYONNET S, NIHOUL-FEKETE C
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2006 - J. Pediat. Surg. 41(1):126-131 |
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PURPOSE: The aim of the study was to clearly define the anomalies that compose the Currarino syndrome (CS). We highlight the frequency of associated malformations of the spinal cord and the possibility of a communication between the presacral tumor and the spinal canal, leading to neurological complications. METHODS: We studied 29 patients with CS, including 12 familial cases; histological examination of the presacral tumor was performed, and cytogenetic and molecular biology studies of the HLXB9 locus were carried out. RESULTS: All except 2 patients had a sacral malformation; 23 had an anorectal anomaly and 8 had isolated chronic intestinal pseudo-obstruction. There were 20 presacral tumors, one of which was malignant. There was a communication between the presacral tumor and the spinal canal in 12 cases, and tethering of the spinal cord in 17 cases. Twenty-five patients underwent surgery with a single-stage operation for 7, on both the intestinal and the presacral malformations, and, when required, the spinal cord anomalies. Twelve patients harbored a heterozygous point mutation of the coding sequence of HLXB9 gene. CONCLUSION: By accurate evaluation of the 4 main features in the CS, the correct surgical management, including neurosurgery, can be performed in a 1-stage approach.
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Unité(s) :
Chirurgie Pédiatrique, Génétique Médicale Pédiatrique, Anatomo-Pathologie, Neurochirurgie Pédiatriqu
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Congenital Hyperinsulinism: Pancreatic [18F]Fluoro-L-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion
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DE LONLAY P, SIMON-CARRE A, RIBEIRO MJ, BODDAERT N, GIURGEA I, LABORDE K, BELLANNE-CHANTELOT C, VERKARRE V, POLAK M, RAHIER J, SYROTA A, SEIDENWURM D, NIHOUL-FEKETE C, ROBERT JJ, BRUNELLE F, JAUBERT F
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2006 - J. Clin. Endocrinol. Metabol. 91(3):933-940 |
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Context: Congenital hyperinsulinism (HI) is characterized by hypoglycemia related to inappropriate insulin secretion. Focal and diffuse forms of hyperinsulinism share a similar clinical presentation, but their treatment is dramatically different. Preoperative differential diagnosis was based on pancreatic venous sampling, a technically demanding technique. Objective: Positron emission tomography (PET) after injection of [(18)F]fluoro-l-DOPA (l-dihydroxyphenylalanine) has been evaluated for the preoperative differentiation between focal and diffuse HI, by imaging uptake of radiotracer and the conversion of [(18)F]fluoro-l-DOPA into dopamine by DOPA decarboxylase. We propose to validate this test by immunohistochemical approach. Patients and Methods: Pancreatic surgical specimens of four focal and three diffuse HI were studied, using anti-DOPA decarboxylase and proinsulin antibodies. The effect of an inhibitor of DOPA decarboxylase (carbidopa) on insulin secretion was evaluated in vivo and in cultured INS-1 cells. Results: Immunohistochemical detection of DOPA decarboxylase showed diffuse staining of Langerhans islets in the whole pancreas in all diffuse cases, in contrast with dense focal staining in all focal cases. Staining of Langerhans islets outside the focal lesion was diffusely but weakly positive. We correlated the localization of DOPA decarboxylase and proinsulin in normal pancreas and in both diffuse and focal HI tissues. The diffuse PET uptake found before treatment in one child with diffuse HI disappeared completely after carbidopa administration, suggesting in vivo that pancreatic cells can take up amine precursors and contain DOPA decarboxylase. The insulin secretion measured in the supernatant was the same whether INS-1 cells were treated by dopamine or Lodosyn or untreated. Conclusion: We validate PET with as a consistent test to differentiate diffuse and focal HI.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Département de Pédiatrie, Explorations Fonctionnelles, Ra
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Molecular Mechanisms of Neonatal Hyperinsulinism
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GIURGEA I, BELLANNE-CHANTELOT C, RIBEIRO M, HUBERT L, SEMPOUX C, ROBERT JJ, BLANKENSTEIN O, HUSSAIN K, BRUNELLE F, NIHOUL-FEKETE C, RAHIER J, JAUBERT F, DE LONLAY P
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2006 - Horm. Res. 66(6):289-296 |
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Congenital hyperinsulinism (CHI), characterized by profound hypoglycaemia related to inappropriate insulin secretion, may be associated histologically with either diffuse insulin hypersecretion or focal adenomatous hyperplasia, which share a similar clinical presentation, but result from different molecular mechanisms. Whereas diffuse CHI is of autosomal recessive, or less frequently of autosomal dominant, inheritance, focal CHI is sporadic. The most common mechanism underlying CHI is dysfunction of the pancreatic ATP-sensitive potassium channel (K(+)(ATP)). The two subunits of the K(+)(ATP) channel are encoded by the sulfonylurea receptor gene (SUR1 or ABCC8) and the inward-rectifying potassium channel gene (KIR6.2 or KCNJ11), both located in the 11p15.1 region. Germ-line, paternally inherited, mutations of the SUR1 or KIR6.2 genes, together with somatic maternal haplo-insufficiency for 11p15.5, were shown to result in focal CHI. Diffuse CHI results from germ-line mutations in the SUR1 or KIR6.2 genes, but also from mutations in several other genes, namely glutamate dehydrogenase (with associated hyperammonaemia), glucokinase, short-chain L-3-hydroxyacyl-CoA dehydrogenase, and insulin receptor gene. Hyperinsulinaemic hypoglycaemia may be observed in several overlapping syndromes, such as Beckwith-Wiedemann syndrome (BWS), Perlman syndrome, and, more rarely, Sotos syndrome. Mosaic genome-wide paternal isodisomy has recently been reported in patients with clinical signs of BWS and CHI. The primary causes of CHI are genetically heterogeneous and have not yet been completely unveiled. However, secondary causes of hyperinsulinism have to be considered such as fatty acid oxidation deficiency, congenital disorders of glycosylation and factitious hypoglycaemia secondary to Munchausen by proxy syndrome. Copyright (c) 2006 S. Karger AG, Basel.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Département de Pédiatrie, Radiologie Pédiatrique
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Congenital hyperinsulinism and mosaic abnormalities of the ploidy
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GIURGEA I, SANLAVILLE D, FOURNET JC, SEMPOUX C, BELLANNE-CHANTELOT C, TOUATI G, HUBERT L, GROOS MS, BRUNELLE F, RAHIER J, HENQUIN JC, DUNNE MJ, JAUBERT F, ROBERT JJ, NIHOUL-FEKETE C, VEKEMANS M, JUNIEN C, DE LONLAY P
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2006 - J. Med. Genet. 43(3):248-254 |
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BACKGROUND: Congenital hyperinsulinism and Beckwith-Wiedemann syndrome both lead to beta islet hyperplasia and neonatal hypoglycaemia. They may be related to complex genetic/epigenetic abnormalities of the imprinted 11p15 region. The possibility of common pathophysiological determinants has not been thoroughly investigated. OBJECTIVE: To report abnormalities of the ploidy in two unrelated patients with congenital hyperinsulinism. METHODS: Two patients with severe congenital hyperinsulinism, one overlapping with Beckwith-Wiedemann syndrome, had pancreatic histology, ex vivo potassium channel electrophysiological studies, and mutation detection of the encoding genes. The parental genetic contribution was explored using genome-wide polymorphism, fluorescent in situ hybridisation (FISH), and blood group typing studies. RESULTS: Histological findings diverged from those described in focal congenital hyperinsulinism or Beckwith-Wiedemann syndrome. No potassium channel dysfunction and no mutation of its encoding genes (SUR1, KIR6.2) were detected. In patient 1 with congenital hyperinsulinism and Beckwith-Wiedemann syndrome, paternal isodisomy for the whole haploid set was homogeneous in the pancreatic lesion, and mosaic in the leucocytes and skin fibroblasts (hemihypertrophic segment). Blood group typing confirmed the presence of two erythroid populations (bi-parental v paternal only contribution). Patient 2 had two pancreatic lesions, both revealing triploidy with paternal heterodisomy. Karyotype and FISH analyses done on the fibroblasts and leucocytes of both patients were unremarkable (diploidy). CONCLUSIONS: Diploid (biparental/paternal-only) mosaicism and diploid/triploid mosaicism were present in two distinct patients with congenital hyperinsulinism. These chromosomal abnormalities led to paternal disomy for the whole haploid set in pancreatic lesions (with isodisomy or heterodisomy), thereby extending the range and complexity of the mechanisms underlying congenital hyperinsulinism, associated or not with Beckwith-Wiedemann syndrome.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Département de Pédiatrie, Génétique Médicale Pédiatrique,
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The Knudson's Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism
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GIURGEA I, SEMPOUX C, BELLANNE-CHANTELOT C, RIBEIRO M, HUBERT L, BODDAERT N, SAUDUBRAY JM, ROBERT JJ, BRUNELLE F, RAHIER J, JAUBERT F, NIHOUL-FEKETE C, DE LONLAY P
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2006 - J. Clin. Endocrinol. Metabol. 91(10):4118-4123 |
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Background: Congenital hyperinsulinism (CHI) is associated with focal hyperplasia of endocrine tissue in 40-65% of patients. Focal CHI is sporadic and is caused by a germline, paternally inherited, mutation of the SUR1 (ABCC8) or KIR6.2 (KCNJ11) genes (encoding subunits of the pancreatic ATP-dependent potassium channel) together with somatic maternal haploinsufficiency for 11p15.5. Plurifocal or large forms of focal CHI are a cause of apparent failure of surgery, and their underlying mechanism has not been thoroughly investigated. Patients: We here report two patients with bifocal CHI as evidenced by relapsing hypoglycemia after removal of the first focal lesion and the detection of a second, distinct, focal adenomatous hyperplasia during later surgery (patients 1 and 2) and a patient with a giant focal lesion involving the major part of the pancreas (patient 3). Results: In the three patients, a germline, paternally inherited, mutation of SUR1 was found. In patients 1 and 2, haploinsufficiency for the maternal 11p15.5 region resulted from a somatic deletion specific for each of the focal lesions, as shown by the diversity of deletion break points. In patient 3, an identical somatic maternal 11p15 deletion demonstrated by similar break points was shown in two independent lesion samples, suggesting a very early event during pancreas embryogenesis. Conclusion: Individual patients with focal hyperinsulinism may have more than one focal pancreatic lesion due to separate somatic maternal deletion of the 11p15 region. These patients and those with solitary focal lesions may follow the two-hit model described by Knudson. The stage of embryogenesis at which the somatic event occurs may account for the observed histological diversity (early event giant lesion, later event small lesion).
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Unité(s) :
Chirurgie Pédiatrique, Département de Pédiatrie, Radiologie Pédiatrique
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Anti-LFA-1 antibody postpones T-cell receptor triggering while preserving generation of regulatory T cells in T-cell receptor anti-HY transgenic mice
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GO S, FLEISCHMANN A, LANTZ O, CRETOLLE C, BROUSSE N, CERF-BENSUSSAN N, SARNACKI S
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2006 - Transplantation 82(1):119-126 |
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BACKGROUND: Anti-LFA-1 (CD11a) antibody increases allograft survival and/or induces tolerance in murine models, but its mechanisms of action remain to be elucidated. METHODS: Rag-2-/- H-2b recipient mice, bearing a transgenic T-cell receptor specific for the male antigen HY presented by MHC class II molecule, were transplanted with a C57BL/6 (H-2b) male heart with or without administration of anti-LFA-1 antibody from days -1 to 9. RESULTS: Treatment prevented the transient episode of acute graft rejection observed in nontreated mice and maintained a naive phenotype and proliferative characteristics comparable to that of naive transgenic lymphocytes on day 7 during treatment, with decreased IFN-gamma mRNA and increased IL-4 mRNA. On day 14, phenotype and proliferative response of lymphocytes in treated mice was comparable to those of untreated animals. Furthermore, treatment did not interfere with the generation of CD4+Vbeta6+CD25+ (Foxp3) cells that were observed in long-term nontreated tolerant mice. CONCLUSIONS: This in vivo model demonstrates that anti-LFA-1 treatment induced a transient blockade of antigen recognition, which inhibited and postponed induction of signal 1 via the TCR and decreased the intensity of the Th1 response. Importantly, LFA-1 blockade did not disturb spontaneous generation of regulatory mechanism. This treatment would be compatible in clinical settings with other therapeutics inducing regulatory mechanisms.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, U793
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Short bowel syndrome and intestinal transplantation in children
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GOULET O, SAUVAT F
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2006 - Curr. Opin. Clin. Nutr. Metab. Care 9(3):304-313 |
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PURPOSE OF REVIEW: This review summarizes recent knowledge and clinical practice for pediatric patients suffering extensive intestinal resection causing short bowel syndrome. This condition requires the use of parenteral nutrition, as long as intestinal failure persists, and may be, in some selected cases, an indication for intestinal transplantation. RECENT FINDINGS: Biological evaluation of intestinal failure is becoming possible with the use of plasma citrulline as a marker of intestinal mass. Few epidemiological data are available; some indicate an increased incidence of short bowel syndrome-related gastroschisis and persistent high incidence of necrotizing enterocolitis. Morbidity and mortality data in pediatric patients with short bowel syndrome are limited, while long-term outcome is better documented from recently reported cohorts. Non-transplant surgery is one of the best options for patients with unadapted short bowel syndrome. Isolated liver transplantation may be avoided. The use of trophic factors for enhancing mucosal hyperplasia still remains disappointing. SUMMARY: The management should include therapies adapted to each stage of intestinal failure, based on a multidisciplinary approach in centers involving pediatric surgery, pediatric gastroenterology, parenteral nutrition expertise, home- parenteral nutrition program, and liver-intestinal transplantation experience. If managed appropriately, the prognosis of short bowel syndrome is excellent, with limited indications for intestinal and/or liver transplantation. Timing for patient referral in specialized centers remains an issue.
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Unité(s) :
Chirurgie Pédiatrique, Gastroentérologie Pédiatrique
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Study of the Impact of Liver Transplantation on the Outcome of Intestinal Grafts in Children
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JUGIE M, CANIONI D, LE BIHAN C, SARNACKI S, REVILLON Y, JAN D, LACAILLE F, CERF-BENSUSSAN N, GOULET O, BROUSSE N, DAMOTTE D
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2006 - Transplantation 81(7):992-997 |
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BACKGROUND.: Successful small bowel transplantation remains a challenge due to the septic and immune content of the gut. The possible beneficial role of the liver was assessed in pediatric recipients of isolated intestinal and liver intestinal combined transplantation, receiving the same immunosuppressive therapy. METHODS.: Fifteen children who underwent small bowel transplantation (seven SbTx) or combined liver-small bowel transplantation (eight LSbTx) at a single center between 1994 and 1998 were retrospectively reviewed and compared with fifteen controls (eight normal and seven appendicitis as inflammatory control). Transplant and patient survival, acute rejection episodes were analyzed and compared. Epithelial apoptotic body counts (ABC) and NF-kB (p65), Caspase-3 and Bax intestinal immunostaining from days 0 to 20 after transplantation were assessed. RESULTS.: Graft and patient survivals at 5 years were respectively 75% and 75% in LSbTx; 43% and 57% in SbTx (NS). Histological analysis showed higher ABC in LSbTx intestinal mucosa (P=0.05 on day 5, P<0.01 thereafter). Immunostaining of biopsies on day 0 after reperfusion showed different expression of NF-kB, Caspase-3 and Bax on endothelial (P<0.05 for NF-kB and Bax), mononuclear (P<0.05 for Bax) and epithelial cells in LSbTx and SbTx. CONCLUSIONS.: Our results suggest a protective role of the liver toward intestinal transplantation even in absence of significative difference, probably due to the small number of children. Early changes in NF-kB immunostaining in the biopsies sampled on day 0, pointed to a possible beneficial effect of the liver in the very early phase following transplantation, perhaps through the differential control of ischemia-reperfusion.
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Unité(s) :
Anatomo-Pathologie, Département de Pédiatrie, U793, Biostatistique, Chirurgie Pédiatrique, Gastroent
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Surgical treatment of an unusual case of pelvic extramedullary hematopoiesis
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KHEN-DUNLOP N, GIROT R, BRUNELLE F, REVILLON Y, NIHOUL-FEKETE C, SARNACKI S
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2006 - J. Pediat. Surg. 41(7):e13-e15 |
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Extramedullary hematopoiesis affects about 15% of the patients treated for thalassemia intermedia. Usually seen in adulthood, the most common location is the paraspinal region. Diagnosis and treatment of extramedullary hematopoiesis located in the pelvis of a young 15-year-old girl is discussed. The young age of the patient and the uncommon site of the mass first lead to the diagnosis of an ovarian dermoid cyst. Because of the clinical history and the typical feature on computed tomography scan, extramedullary hematopoiesis was concluded. A specific treatment based on blood transfusion and hydroxyurea was first proposed but remained inefficient. Surgical excision was thus successfully performed. Whereas surgery is limited to spinal cord compression in paraspinal extramedullary hematopoiesis, this observation argues for surgical treatment in symptomatic intraabdominal extramedullary hematopoiesis when medical treatment fails.
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Unité(s) :
Chirurgie Pédiatrique, Radiologie Pédiatrique, Laboratoire d'Hématologie
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A multicenter evaluation of urinary incontinence management and outcome in spina bifida
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LEMELLE JL, GUILLEMIN F, AUBERT D, GUYS JM, LOTTMANN H, LORTAT-JACOB S, MOSCOVICI J, MOURIQUAND P, RUFFION A, SCHMITT M
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2006 - J. Urol. 175(1):208-212 |
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Purpose: We describe urinary continence management and outcome in patients with spina. bifida to identify the procedures that are most successful. Materials and Methods: In a multicenter retrospective cohort study medical charts were studied. At the same time in a cross-sectional survey sociodemographic characteristics, orthopedic features and urinary continence were described based on the frequency of leakage from the viewpoint of patients or close relatives using a Likert scale of 5 items, namely I-leakage permanent to 5-leakage never. Results: A total of 421 patients were included, of whom 191 (45%) had been medically treated with a normal voiding pattern according to the patient viewpoint in 21%, clean intermittent catheterization in 61% and no specific bladder emptying method in 18%. The mean leakage score +/- SD was 2.74 +/- 1.55. On the other hand, 230 patients (55%) were surgically treated. Except for 23 patients who underwent noncontinent urinary diversion 207 were considered for treatment and continence description. The mean leakage score was 3.45 +/- 1.60. An artificial urinary sphincter in male and females, and a sling or Kropp technique in females were satisfactory when bladder enlargement was not required. In cases of bladder augmentation without continent diversion an artificial urinary sphincter in males and a bladder neck sling or cinch, Kropp and Young-Dees procedures in females have provided the best results. In cases of bladder enlargement with continent urinary diversion bladder neck closure or a wrap have provided the best results whatever the patient sex. Conclusions: Many factors may influence the choice of a technique, such as patient sex, bladder characteristics or orthopedic conditions. However, since to our knowledge no randomized, controlled study has been yet performed, definitive conclusions on the best way to achieve urinary continence in patients with spina bifida cannot be established.
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Unité(s) :
Chirurgie Pédiatrique
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A multicentre study of the management of disorders of defecation in patients with spina bifida
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LEMELLE JL, GUILLEMIN F, AUBERT D, GUYS JM, LOTTMANN H, LORTAT-JACOB S, MOSCOVICI J, MOURIQUAND P, RUFFION A, SCHMITT M
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2006 - Neurogastroenterol. Motil. 18(2):123-128 |
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Patients with spinal dysraphism may have severe constipation and faecal incontinence. The impact of antegrade colonic enema (ACE) in the management of patients with spina bifida (SB) is analysed. In a multicentre cross-sectional study, constipation, faecal incontinence and faecal management were described. Cases surgically treated were identified. Data were collected from 423 patients, of whom 230 did not use any manoeuvre or laxatives to assist evacuation. Conventional treatment was used in 193 patients, including digital extraction in 39%, retrograde enema in 21% and oral laxatives in 52%. For intractable constipation and overflow of faecal incontinence, 47 patients were treated with ACE, of whom 41 used the method at a mean time of interview of 4.1 +/- 1.9 years after ACE operation; six abandoned ACE for conventional management. With ACE, faecal continence was significantly improved compared with conventional management, and neither retrograde rectal enema nor digital extraction were required. The conduit was fashioned to the right colon in 32 cases and to the left colon in nine cases. This study provides information on a multicentre experience in bowel management in SB patients. Whatever the technique used, ACE has improved faecal status compared with conventional therapy.
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Unité(s) :
Chirurgie Pédiatrique
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Quality of Life and Continence in Patients with Spina Bifida
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LEMELLE JL, GUILLEMIN F, AUBERT D, GUYS JM, LOTTMANN H, LORTAT-JACOB S, MOURIQUAND P, RUFFION A, MOSCOVICI J, SCHMITT M
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2006 - Qual. Life Res. 15(9):1481-1492 |
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PURPOSE: Spina bifida (SB) is the most common congenital cause of incontinence in childhood. This study attempts to determine the relationships between urinary/faecal incontinence, methods of management, and Health Related Quality of Life (HRQoL) in people with SB. PATIENTS AND METHOD: A total of 460 patients (300 adults and 160 adolescents) from six centres in France have taken part in this cross-sectional study. Clinical outcome measures included walking ability, urinary/faecal continence, and medical management. HRQoL was assessed using the SF36 in adults and the VSP in adolescents and their parents. Univariate and multivariate analysis was used to determine the relationships between clinical parameters and HRQoL. RESULTS: HRQoL were significantly lower than in the general population. Adult women had significantly lower scores than men, and adolescent females had significantly lower scores for psychological well being. We did not found strong relationship between incontinence and HRQoL in this population. Moreover patients surgically managed for urinary/fecal incontinence did not show significantly higher scores of HRQoL. CONCLUSION: Using generic HRQoL measures, urinary/faecal incontinence and their medical management may not play a determinant role in HRQoL of persons with SB. However many other factors affect HRQoL in these patients. A longitudinal study design is recommended to assess whether incontinence management is associated with improve HRQoL.
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Unité(s) :
Chirurgie Pédiatrique
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Long-term effects of dextranomer endoscopic injections for the treatment of urinary incontinence: an update of a prospective study of 61 patients
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LOTTMANN HB, MARGARYAN M, LORTAT-JACOB S, BERNUY M, LACKGREN G
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2006 - J. Urol. 176(4 Suppl.):1762-1766 |
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PURPOSE: To treat sphincteric deficiency in children endoscopic bladder neck injections may avoid or salvage more complex procedures. A prospective study to assess the efficacy of bladder neck injections of dextranomer based implants (Deflux(R)) was done in a 7-year period in 61 patients. MATERIALS AND METHODS: From September 1997 to September 2004 we enrolled in the study 41 males and 20 females 5 to 18 years old with severe sphincteric incompetence, including exstrophy-epispadias in 26, neuropathic bladder in 27, bilateral ectopic ureters in 5, and miscellaneous in 3. Preoperative evaluation consisted of medical history, urine culture, urinary tract ultrasound and videourodynamics. This evaluation was repeated 6 months and 1 year after treatment, and yearly thereafter. Of the patients 17 underwent 2 and 4 underwent 3 treatment sessions to achieve a definitive result. At each evaluation the case was considered cured-a dryness interval of 4 hours between voids or CIC, significantly improved-minimal incontinence requiring no more than 1 pad daily and no further treatment required, and treatment failure-no significant, long lasting improvement. Videourodynamics were mainly useful to study the evolution of bladder capacity, activity and compliance. Followup after the last injection was 6 to 84 months (mean 28). RESULTS: Mean injected volume per session was 3.9 cc (range 1.6 to 12). Postoperative complications were temporary dysuria in 2 patients nonfebrile urinary tract infection in 10, orchid-epididymitis in 1 and urinary retention with pyelonephritis in 1. The incidence of dryness or improvement during followup was 79% (48 of 61 patients) at 1 month, 56% (31 of 55) at 6 months, 52% (24 of 46) at 1 year, 51% (18 of 35) at 2 years, 52% (16 of 31) at 3 years, 48% (12 of 25) at 4 years, 43% (9 of 21) at 5 years, 36% (4 of 11) at 6 years and 40% (2 of 5) at 7 years. The success rate according to pathological condition was similar in cases of neuropathic bladder and the exstrophy-epispadias complex (48% and 53%, respectively). The success rate in re-treated cases was 38%. After treatment a contracted bladder developed in 6 patients. Also, of the 35 patients with at least 2 years of followup an increase in capacity of at least 50% was observed in 12 of 18 with an initially small bladder. No side effects related to the substance were observed. CONCLUSIONS: Endoscopic treatment for pediatric severe sphincteric deficiency with dextranomer implant, a nontoxic, nonimmunogenic, nonmigratory synthetic substance, was effective up to 2 years in half of the patients. Subsequently at up to 7 years of followup a slow decrease in efficacy was observed and treatment remained beneficial in 40% of the patients.
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Unité(s) :
Chirurgie Pédiatrique
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Grand mal seizures: an unusual and puzzling primary presentation of ruptured hepatic hydatid cyst
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MEYER PG, BONNEVILLE C, ORLIAGUET GA, DESSEMME P, BLAKIME P, CARLI PA, REVILLON Y
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2006 - Paediatr. Anaesth. 16(6):676-679 |
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We report a case of hepatic hydatidosis where the first clinical manifestations, generalized seizures after minor head and abdominal trauma, and delayed anaphylaxis, made the primary diagnosis difficult. Severe anaphylaxis has been reported as initial presentation of quiescent hepatic hydatidosis. In endemic areas, the diagnosis must be carefully ruled out in patients experiencing abrupt anaphylactic shock of uncertain etiology. The occurrence of unexplained vascular collapse after minor abdominal trauma in a patient originating from an endemic area should prompt the diagnosis and urgent treatment should be initiated; firstly emergency management of the anaphylactic shock and later, surgical treatment of the cysts.
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Unité(s) :
Anesthésie Pédiatrique, Chirurgie Pédiatrique, SAMU, Radiologie Pédiatrique
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Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism
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MOHNIKE K, BLANKENSTEIN O, CHRISTESEN HT, DE LONLAY P, HUSSAIN K, KOOPMANS KP, MINN H, MOHNIKE W, MUTAIR A, OTONKOSKI T, RAHIER J, RIBEIRO M, SCHOENLE E, Nihoul-Fekete C
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2006 - Horm. Res. 66(1):40-42 |
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Unité(s) :
Chirurgie Pédiatrique, Département de Pédiatrie
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Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients
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NIHOUL-FEKETE C, THIBAUD E, LORTAT-JACOB S, JOSSO N
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2006 - J. Urol. 175(5):1878-1884 |
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PURPOSE: To improve treatment policy, we retrospectively evaluated the results of early corrective genital surgery in 63 sexually ambiguous patients 14 to 38 years old. MATERIALS AND METHODS: We analyzed all records classified under male pseudohermaphroditism and true hermaphroditism. Anatomical and functional results and data on self-reported satisfaction were recorded by the managing physician at the last routine followup visit. RESULTS: A total of 38 patients were raised female and 25 were raised male. Basal procedures for external genital reconstruction were initiated shortly after birth, when gender was assigned. Complementary surgical procedures were usually required later. In both sexes there was a significant negative correlation between the number of basal, but not complementary, procedures required and year of birth, due to the adoption of 1-stage procedures in the early 1980s. Most patients with gonadal dysgenesis were raised as females and menstruated under treatment but breast development was abnormal in 30%. Spontaneous puberty was observed in true hermaphrodites raised as either sex. In females with partial androgen insensitivity the main problem was shortness of the vagina. Amenorrhea and infertility often led to transient distress. In males results were poor due to intractable micropenis and minimal virilization. Results were good in 5alpha-reductase deficiency. CONCLUSIONS: Results of intersex surgery have clearly improved with time, and apart from a patient with 5alpha-reductase deficiency who underwent a successful sex change, no patient expressed dissatisfaction with sex of rearing. However, in the absence of an in-depth psychological survey, these optimistic conclusions are valid only in the settings of our study.
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Unité(s) :
Chirurgie Pédiatrique, Endocrinologie et Croissance
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Burkholderia pseudomallei infection in chronic granulomatous disease
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RENELLA R, PEREZ JM, CHOLLET-MARTIN S, SARNACKI S, FISCHER A, BLANCHE S, CASANOVA JL, PICARD C
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2006 - Eur. J. Pediat. 165(3):175-177 |
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Melioidosis is a severe illness caused by Burkholderia pseudomallei, a sepsis-causing bacterial pathogen that is common in East Asia. We reexamined the underlying diagnosis in a 12-year-old boy who was diagnosed in the French West Indies with melioidosis when he was 4 years old. Our investigations led to the determination of chronic granulomatous disease (CGD), an inherited condition characterized by phagocytic cell dysfunction. This is the third reported case of melioidosis associated with CGD to be reported, lending support to an association between the two. The molecular determinants of the susceptibility of CGD patients to B. pseudomallei are still unknown. Our report suggests that CGD should be suspected in children with melioidosis, both in the Americas and probably in other regions world-wide.
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Unité(s) :
Chirurgie Pédiatrique, Immuno-Hématologie Pédiatrique, U550
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Seventeen years after successful small bowel transplantation: long term graft acceptance without immune tolerance
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RUEMMELE FM, SAUVAT F, COLOMB V, JUGIE M, JAN D, CANIONI D, DAMOTTE D, SARNACKI S, BROUSSE N, REVILLON Y, GOULET O
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Unité(s) :
Gastroentérologie Pédiatrique, Anatomo-Pathologie, Chirurgie Pédiatrique
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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
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SANLAVILLE D, ETCHEVERS HC, GONZALES M, MARTINOVIC J, CLEMENT-ZIZA M, DELEZOIDE AL, AUBRY MC, PELET A, CHEMOUNY S, CRUAUD C, AUDOLLENT S, ESCULPAVIT C, GOUDEFROYE G, OZILOU C, FREDOUILLE C, JOYE N, MORICHON-DELVALLEZ N, DUMEZ Y, WEISSENBACH J, MUNNICH A, AMIEL J, ENCHA-RAZAVI F, LYONNET S, VEKEMANS
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2006 - J. Med. Genet. 43(3):211-217 |
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BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown. METHODS: We studied a series of 10 antenatal cases in whom the diagnosis of CHARGE syndrome was suspected, considering that a careful pathological description would shed light on the CHD7 function during development. CHD7 sequence analysis and in situ hybridisation were employed. RESULTS: The diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation. Interestingly, arhinencephaly and semi-circular canal agenesis were two constant features which are not included in formal diagnostic criteria so far. In situ hybridisation analysis of the CHD7 gene during early human development emphasised the role of CHD7 in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome. CONCLUSIONS: These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.
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Unité(s) :
Chirurgie Pédiatrique, Génétique Médicale Pédiatrique, U781, Obstétrique
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The transmanubrial approach: A new operative approach to cervicothoracic neuroblastoma in children
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SAUVAT F, BRISSE H, MAGDELEINAT P, LOPEZ M, PHILIPPE-CHOMETTE P, ORBACH D, AERTS I, BRUGIERES L, REVILLON Y, SARNACKI S
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2006 - Surgery 139(1):109-114 |
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BACKGROUND: Cervicothoracic neuroblastoma originates from the cervical sympathetic nerves and ganglia and thus presents a problem when dissecting the vascular and nervous elements of the subclavian region. The standard operation is based on thoracotomy or dual cervicotomy/thoracotomy, but these approaches do not provide optimal control of the subclavian vessels. We report our experience in children with cervicothoracic neuroblastoma by using a technique usually performed for apical lung cancer. METHODS: Four patients with localized cervicothoracic neuroblastoma with no N-myc amplification were resected after chemotherapy by this approach. The anatomic evaluation was performed preoperatively with angio-magnetic resonance imaging. This transmanubrial approach, performed through a manubrial L-shaped transection and first costal cartilage resection, affords excellent access to the subclavian region with safe control of the vessels and nerves and exposure of the first 4 thoracic intervertebral foramina. RESULTS: Removal of more than 90% of the tumor was possible in all cases. The postoperative course was uneventful in 3 cases, and the fourth patient with a left-sided tumor had a transient chylothorax. No recurrence occurred with a follow-up period of 8 to 32 months. CONCLUSIONS: The transmanubrial approach is an osteomuscular-sparing technique that seems particularly suitable for the treatment of these tumors, which require a resection that is as complete as possible to avoid postoperative chemotherapy and tumor relapse.
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Unité(s) :
Chirurgie Pédiatrique
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Factors influencing outcome after intestinal transplantation in children
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SAUVAT F, DUPIC L, CALDARI D, LESAGE F, CEZARD JP, LACAILLE F, RUEMMELE F, HUGOT JP, COLOMB V, JAN D, HUBERT P, REVILLON Y, GOULET O
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2006 - Transplant. Proc. 38(6):1689-1691 |
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We evaluated 131 patients (6 months-14 years) who experienced 21 deaths before listing, 11 continuing on the waiting list, 38 well on home parenteral nutrition, 6 off parenteral nutrition and 59 transplanted (20 girls) aged 2.5 to 15 years, (18 >7 years). They received cadaveric isolated intestine (ITx, n = 31) or liver-small bowel (LITx, n = 32), including right colon (n = 43; 23 LITx) for short bowel (n = 19), enteropathy (n = 20), Hirschsprung (n = 14), or pseudo-obstruction (n = 6). Treatment included tacrolimus, steroids, azathioprine, or interleukin-2 blockers. After 6 months to 10.5 years, the patient and graft survivals were 75% and 54%. Sixteen patients (10 LITx) died within 3 months from surgery (n = 3), bacterial (n = 5) or fungal (n = 6) sepsis, or posttransplant lymphoproliferative disorder (n = 2). Rejection occurred in 27 patients, including 10 steroid-resistant episodes requiring antilymphoglobulins. The grafts were removed due to uncontrolled rejection in seven ITx recipients. Surgical complications were observed in 38 recipients (25 LSBTx) within 2 months, including bacterial (n = 22) or fungal (n = 11) sepsis, cytomegalovirus disease (n=12), adenovirus (n = 11), or posttransplant lymphoproliferative disorder (n = 12). Forty-two children (19 LSBTx) are alive. Weaning from parenteral nutrition was achieved after 42 days (median). Factors related to death or graft loss were pre-Tx surgery (P < .01), pseudo-obstruction (P < .01), age over 7 years (P < .03), fungal sepsis (P < .03), steroid resistant rejection (P < .05), hospitalized versus home patient (P < .01), and retransplantation (P < .05). Colon transplant did not affect the outcome. Interleukin-2 blockers improved isolated ITx (P < .05). Early referral and close monitoring of intestinal failure and related disorders are mandatory to achieve successful ITx.
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Unité(s) :
Chirurgie Pédiatrique, Gastroentérologie Pédiatrique, Réanimation Pédiatrique - Néonatalogie
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Paraesophageal bronchogenic cyst: first case reports in pediatric
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SAUVAT F, FUSARO F, JAUBERT F, GALIFER B, REVILLON Y
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2006 - Pediat. Surg. Int. 22(10):849-851 |
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We described for the first time a paraesophageal intra-abdominal bronchogenic cyst, first considered as hepatic tumor, in a young boy. Resection was successfully realized by laparoscopy. Abdominal bronchogenic cyst and differential diagnosis are discussed.
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Unité(s) :
Chirurgie Pédiatrique, Anatomo-Pathologie
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Noninvasive investigation of autonomic activity after carotid stenting or carotid endarterectomy
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YAKHOU L, CONSTANT I, MERLE JC, LAUDE D, BECQUEMIN JP, DUVALDESTIN P
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2006 - J. Vasc. Surg. 44(3):472-479 |
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OBJECTIVE: Carotid artery stenting (CAS) has been introduced as an alternative to carotid endarterectomy (CEA) for the treatment of carotid artery stenosis. Both techniques seem to be associated with postoperative hemodynamic lability. Both may induce baroreceptor dysfunction, possibly leading to transient impairment of cardiovascular autonomic activity and resulting in hemodynamic instability. This instability might contribute to postoperative morbidity. To elucidate these phenomena, we studied the cardiac baroreflex and autonomic cardiovascular control after CAS and CEA. METHOD: In 20 patients scheduled for CAS (n = 10) or CEA (n = 10), intra-arterial pressures and electrocardiograms were recorded during 10 minutes before and 8 and 24 hours after the procedure. Spontaneous cardiac baroreflex sensitivity was assessed using the sequence method and cross-spectral analysis. In addition, cardiovascular autonomic activity was investigated using spectral analysis of heart rate variability and systolic arterial pressure variability. RESULTS: After CAS, we demonstrated an increase of the spontaneous baroreflex sensitivity median (interquartile range) from 5.6 (5.1 to 6.2) ms/mm Hg before the procedure to 8.8 (6.8 to 10.5) ms/mm Hg and 7.7 (3.9 to 8.6) ms/mm Hg (P < .001), 8 and 24 hours after the procedure. This was consistent with the increase of the high frequency component of heart rate variability reflecting cardiac parasympathetic activity and a decrease of the low frequency of systolic arterial pressure variability reflecting sympathetic vascular activity. The postoperative period was also associated with decreased systolic arterial pressure from 173 (162 to 190) mm Hg at baseline to 122 (109 to 143) mm Hg and 136 (121 to 143) mm Hg at 8 and 24 hours after CAS (P < .001). No changes in baroreflex sensitivity or in autonomic activity were observed after CEA. CONCLUSIONS: These preliminary data suggest that CAS is associated with parasympathetic predominance postoperatively and may probably explain the lower systolic arterial pressure observed after CAS.
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Unité(s) :
Chirurgie Pédiatrique
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Radiological innovations in the diagnosis of the metabolic diseases : spectroscopy and cerebral MRI in creatine deficiencies, polyols anomalies, and metabolites on the pentose pathway-positron emission tomography (PET) after injection of [18F]Fluoro-
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BODDAERT N, RIBEIRO M, TOUATI G, MENTION K, VALAYANOPOULOS V, NIHOUL-FEKETE C, BRUNELLE F, DE LONLAY P
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2005 - M S-Méd. Sci. 21(11):981-986 |
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New metabolic diseases are regularly identified by a genetic or biochemical approach. Indeed, the metabolic diseases result from an enzymatic block with accumulation of a metabolite upstream to the block and deficit of a metabolite downstream. The characterization of these abnormal metabolites by MRI spectroscopy permitted to identify the deficient enzyme in two new groups of diseases, creatine deficiencies and polyol anomalies. Creatine deficiency is implicated in unspecific mental retardation. A low peak of creatine at MRI spectroscopy is evocating of creatine deficiency which is treatable by creatine administration. Deficiency of synthesis of polyols, metabolites on the pentose pathway, represent new described metabolic diseases with variable symptoms including a neurological distress, liver disease, splenomegaly, cutis laxa and renal insufficiency. The deficit of ribose-5-phosphate isomerase, one of the enzymes whose diagnosis is evoked in front of the accumulation of ribitol, arabitol and xylitol leads to a leucodystrophy in adults. This new deficit was highlighted by the identification of an abnormal peak in cerebral MRI-spectroscopy corresponding to the abnormal accumulation of polyols in brain. Congenital hyperinsulinism (HI) is characterized by profound hypoglycaemia related to inappropriate insulin secretion. Focal and diffuse forms of hyperinsulinism share a similar clinical presentation but their treatment is dramatically different. Until recently, preoperative differential diagnosis was based on pancreatic venous sampling, an invasive and technically demanding technique. Positron emission tomography (PET) after injection of [18F]Fluoro-L-DOPA has been evaluated for the preoperative differentiation between focal and diffuse HI, by imaging uptake of radiotracer and the conversion of [18F]Fluoro-L-DOPA into dopamine by DOPA decarboxylase. PET with [18F]Fluoro-L-DOPA has been validated as a reliable test to differentiate diffuse and focal HI and is now a major differential diagnosis tool in infantile hyperinsulinemic hypoglycaemia. double dagger.
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Unité(s) :
Chirurgie Pédiatrique, Radiologie Pédiatrique, U393
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Enhanced in situ expression of NF-kappaBp65 is an early marker of intestinal graft rejection in rats
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CHEIKHELARD A, GO S, CANIONI D, LEBORGNE M, BROUSSE N, REVILLON Y, CERF-BENSUSSAN N, SARNACKI S
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2005 - J. Pediat. Surg. 40(9):1420-1427 |
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BACKGROUND: Although intestinal transplantation provides a unique situation of free access to the graft because of the presence of temporary enterostomas, evaluation of local immunosuppression is still an unresolved issue and may constitute one of the causes of grafting failure. AIMS: To study in a rat model of allogeneic intestinal transplantation the expression of transcription factors involved in lymphocyte activation in situ in the graft and to identify factors reflecting the efficiency of drug immunosuppression. METHODS: Intestinal transplantation was performed in a Brown Norway (RT1n-donors)-Lewis (RT1(l)-recipients) rat strain combination. The animals were treated with tacrolimus to induce tolerance or left untreated. Syngeneic intestinal grafts and intestine from donor rats with peritonitis were used as controls. NF-kappaBp65, p-c-Jun, interleukin 2 receptor (CD25), and major histocompatibility complex class II antigen (OX-6) expression was studied in graft biopsies on days 2 and 5 by immunohistochemistry. RESULTS: On day 2, before the onset of histologic signs of rejection, the number of cells expressing NF-kappaBp65 in the pericryptic lamina propria was significantly higher in untreated recipients of allogeneic grafts than in the other groups (P = .009). NF-kappaBp65 expression then fell between days 2 and 5 (P = .009). Classic markers of T-cell activation (CD25 and OX-6) were expressed during rejection in the lamina propria and on crypt enterocytes, respectively. p-c-Jun expression did not differ among the 3 groups. CONCLUSION: NF-kappaBp65 expression in intestinal grafts is a precocious sign of local activation during rejection and could thus serve to optimize the management of immunosuppressive therapy.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, E 0212
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Exclusion of WNT4 as a major gene in Rokitansky-Kuster-Hauser anomaly
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CLEMENT-ZIZA M, KHEN N, GONZALES J, CRETOLLE-VASTEL C, PICARD JY, TULLIO-PELET A, BESMOND C, MUNNICH A, LYONNET S, NIHOUL-FEKETE C
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2005 - Amer. J. Med. Genet. A 137A(1):98-99 |
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No Abstract.
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Unité(s) :
Chirurgie Pédiatrique, U393
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Hyperinsulinisme persistant du nouveau-ne et du nourrisson : traitement chirurgical des lesions pancreatiques focales dans 60 cas
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CRETOLLE C, DE LONLAY P, SAUVAT F, BRUNELLE F, RAHIER J, SAUDUBRAY JM, NIHOUL-FEKETE C
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2005 - Archives Pédiatrie 12(3):258-263 |
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Congenital hyperinsulinism of infancy is a severe disease that leads to important brain damage. Two different forms of the disease have been identified by pathologists: a diffuse and a focal form. A specific genetic anomaly identified in focal forms has never been described in diffuse ones. However, for most of authors, failure of medical treatment results in near-total pancreatectomy in all cases, which ends in diabetus. The aim of this retrospective study was to assess the results of elective partial pancreatectomy performed in 60 cases of focal form of hyperinsulinism over the last 18 years. Fifty-eight patients were cured with euglycemia at both fasting and hyperglycaemic tests without insulin-dependent diabetes mellitus. One patient is still in hypoglycaemia from unrecognized lesion; insulin-dependent diabetes mellitus occurred in one case nine years after surgery (a near-total pancreatectomy has been performed because of unknown focal form, in 1985).
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Unité(s) :
Chirurgie Pédiatrique, Département de Pédiatrie, Radiologie Pédiatrique
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Dominantly inherited hyperinsulinaemic hypoglycaemia
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DE LONLAY P, GIURGEA I, SEMPOUX C, TOUATI G, JAUBERT F, RAHIER J, RIBEIRO M, BRUNELLE F, NIHOUL-FEKETE C, ROBERT JJ, SAUDUBRAY JM, STANLEY C, BELLANNE-CHANTELOT C
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2005 - J. Inherit. Metab. Dis. 28(3):267-276 |
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Congenital hyperinsulinism (HI), the most important cause of hypoglycaemia in early infancy, is a heterogeneous disease with two types of histological lesions, focal and diffuse, with major consequences in terms of surgical approaches. In contrast to focal islet-cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward-rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) enzyme inrecessi-vely inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise-induced HI with still-unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism. Thus, dominant HI disorders always correspond to diffuse HI, where most hypoglycaemia occur in infancy, and are sensitive to medical treatment. Channel causes could be due to dominant negative mutation with one abnormality in channels composed of four Kir6.2 subunits and four SUR1 subunits, leading to a complete destruction of the channel structure or function, or due to haploinsufficiency with only one functional allele, leading to 50% of functional protein, which is not sufficient to obtain enough opened channels to maintain the membrane depolarized. Metabolic causes are due to a gain of function of enzyme activity (deregulated enzymes), except for physical exercise-induced hyperinsulinaemic hypoglycaemia, of still-unknown cause. Congenital hyperinsulinism (HI) is the most important cause of hypoglycaemia in early infancy (Aynsley-Green et al 2000; Cornblath et al 1990; Pagliara et al 1973; Thomas et al 1977). The inappropriate oversecretion of insulin is responsible for profound hypoglycaemia that requires aggressive treatment to prevent severe and irreversible brain damage (Volpe 1995). HI is a heterogeneous disease associated with several genes, various mechanisms of pathogenic mutations and different transmissions (Dunne et al 2004).
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Département de Pédiatrie, Radiologie Pédiatrique, U393, M
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Congenital hyperinsulinism in newborn and infant
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GIURGEA I, RIBEIRO MJ, BODDAERT N, TOUATI G, ROBERT JJ, SAUDUBRAY JM, JAUBERT F, BELLANNE-CHANTELOT C, BRUNELLE F, NIHOUL-FEKETE C, DE LONLAY P
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2005 - Archives Pédiatrie 12(11):1628-1635 |
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Congenital hyperinsulinism (HI) is the most important cause of hypoglycaemia in early infancy. The inappropriate oversecretion of insulin is responsible for profound hypoglycaemias requiring aggressive treatment to prevent severe and irreversible brain damage. Several classifications of HI can be attempted, based on: 1) the onset of hypoglycemia in the neonatal period or later in infancy; 2) the histological lesion: focal or diffuse; 3) the genetic transmission: sporadic, recessive, or less frequently dominant. The most common underlying mechanism of HI is dysfunction of the pancreatic ATP-sensitive potassium channel (K(+)(ATP)). The 2 subunits of the K(+)(ATP) channel are encoded by either the sulfonylurea receptor gene (SUR1 or ABCC8) or the inward-rectifying potassium channel gene (KIR6.2. or KCNJ11), both located in the 11p15.1 region. Focal CHI has been shown to result from a paternally inherited mutation on the SUR1 or KIR6.2 gene and loss of the maternal 11p15 allele restricted to the pancreatic lesion. Diffuse HI, frequently due to mutations of the SUR1 or KIR6.2 genes of autosomal recessive inheritance is genetically heterogeneous. The distinction between the focal and the diffuse HI is very important, because the treatments are different. To distinguish between focal and diffuse HI, transhepatic catheterisation with pancreatic venous sampling was the reference technique, but will likely be replaced by [(18)F] Fluoro-L-Dopa PET scan, which is easier to perform. In absence of response to the medical treatment (diazoxide) a limited pancreatectomy permits to cure focal HI, while a diffuse HI requires a subtotal pancreatectomy with high risk of subsequent diabetes mellitus.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Radiologie Pédiatrique, Métabolisme-Neurologie, Départeme
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Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy
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GIURGEA I, ULINSKI T, TOUATI G, SEMPOUX C, MOCHEL F, BRUNELLE F, SAUDUBRAY JM, Nihoul-Fekete C, DE LONLAY P
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2005 - Pediatrics 116(1):e145-e148 |
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Clinical history and inappropriate insulin secretion during hypoglycemic episodes permit the diagnosis of hyperinsulinism. We report 2 cases of factitious hyperinsulinism leading to partial pancreatectomy. Case 1 was an 8-year-old girl who presented with severe hypoglycemia and elevated insulin and C-peptide levels. Catheterization of pancreatic veins was performed to localize the excess insulin secretion. Insulinoma was suspected, and partial pancreatectomy was performed. Ten days after surgery, severe hypoglycemia recurred with severely elevated plasma insulin levels (x100) but very low C-peptide plasma levels, suggesting factitious hyperinsulinemia. Hypoglycemic episodes before surgery were provoked by oral sulfonamides; postoperative episodes were caused by parenteral insulin. Falsified prescriptions for sulfonamides and insulin by the mother, a nurse, were found. Case 2 was a 6-month-old girl who presented with seizures and hypoglycemia but had a symptom-free interval of many months afterward. At 2 years of age, repeated hypoglycemic seizures and elevated insulin plasma levels suggested congenital hyperinsulinism. C-peptide plasma level, measured once, was normal, but blood sampling was performed 15 minutes after a hypoglycemic episode. Partial pancreatectomy was performed. Two weeks after surgery, hypoglycemic seizures recurred, and the patient was admitted for pancreatic vein catheterization. This investigation was performed during hypoglycemia and revealed high insulin levels and undetectable C-peptide levels, suggesting factitious hypoglycemia. Insulin/C-peptide ratio analysis is crucial to assess factitious hypoglycemia, although sulfonamide-induced hypoglycemia is not thereby detected. One percent (2 of 250) of all cases of hyperinsulinemic hypoglycemia in our unit have been identified as Munchausen syndrome by proxy. Atypical disease history should raise the question of factitious hypoglycemia.
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Unité(s) :
Chirurgie Pédiatrique, Radiologie Pédiatrique, Métabolisme-Neurologie
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Liver-induced immune tolerance in recipients of combined liver-intestine transplants
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GOULET O, DAMOTTE D, SARNACKI S
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2005 - Transplant. Proc. 37(4):1689-1690 |
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Unité(s) :
Gastroentérologie Pédiatrique, Chirurgie Pédiatrique, Anatomo-Pathologie
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Results of the paris program: ten years of pediatric intestinal transplantation
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GOULET O, SAUVAT F, RUEMMELE F, CALDARI D, DAMOTTE D, CEZARD JP, LACAILLE F, CANIONI D, HUGOT JP, BEREBI D, SARNACKI S, COLOMB V, JAN D, AIGRAIN Y, REVILLON Y
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2005 - Transplant. Proc. 37(4):1667-1670 |
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Gastroentérologie Pédiatrique
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Fourth ventricle neurocytoma with lipomatous and ependymal differentiation
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JOUVET A, LELLOUCH-TUBIANA A, BODDAERT N, ZERAH M, CHAMPIER J, FEVRE-MONTANGE M
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2005 - Acta Neuropathol. 109(3):346-351 |
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We report the case of a 4-year-old girl with a fourth ventricle tumor diagnosed as a cerebellar liponeurocytoma which recurred, showing ependymal differentiation, 14 months after surgery. Magnetic resonance imaging at initial presentation revealed a large mass in the fourth ventricle, and histology showed a neoplasm characterized by a combination of well-differentiated neurocytes and cells resembling adipocytes. The tumor recurrence was histologically identical to the original tumor in some regions, but with fewer adipose-like cells, while other areas presented an endocrine architecture with oligo-like or pleiomorphic cells, and rosette-like arrangements of tumoral cells were seen around the thin vessels, with features similar to cellular ependymoma. The cells in the liponeurocytoma areas expressed synaptophysin, chromogranin A, and epithelial membrane antigen. Glial fibrillary acidic protein was expressed in some dispersed tumoral cells, in lipidized tumoral cells, and in reactive astrocytes. Cytokeratin was focally expressed in the ependymal region of the recurrence. The immunophenotype of our case, with glial, ependymal, and neuronal or neuroendocrine markers, suggest a neurocytoma with lipomatous and ependymal differentiation. This tumor resembled those derived from circumventricular organs. Its localization in the area postrema region led us to hypothesize that it may be derived from this circumventricular organ.
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Unité(s) :
Chirurgie Pédiatrique, Radiologie Pédiatrique
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Idiopathic male pseudohermaphroditism: Variations in presentation and management
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MEAU-PETIT V, MARCOU V, TRIVIN C, LORTAT-JACOB S, MCELREAVEY K, BRAUNER R
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2005 - J. Pediatr. Endocrinol. Metab. 18(6):569-575 |
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Male pseudohermaphroditism (MPH) is the abnormal development of genitalia in an individual with a 46,XY chromosome complement and testicular tissue. The etiology of MPH is unknown in most cases, which are defined as idiopathic. Objective: To analyze the data for cases of idiopathic MPH. Patients and Methods: A retrospective study of 29 patients with idiopathic MPH and no uterus. Results: Four patients had a family history of abnormal sexual development and five had low birth weight. The initial manifestations were sexual ambiguity (26), microphallus and hypospadias (2), and primary amenorrhea (1). Basal and/or stimulated testosterone concentrations showed insufficient testosterone secretion in three patients. Genitography showed a vagina in 13 patients. Male genitoplasties were performed on 21 out of the 24 patients reared as males and female genitoplasties on five patients. Histological studies of the gonads of these showed streak gonads in one, normal gonads in one and signs of testicular dysgenesis in three others. Molecular studies on the SRY gene (17) showed no mutation. Conclusions: Idiopathic male pseudohermaphroditism is a heterogeneous condition, even within families with a history of this condition. We propose a set of guidelines for the management of these patients.
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Unité(s) :
Chirurgie Pédiatrique, Explorations Fonctionnelles
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Inflammatory myofibroblastic tumor in children: clinical review with anaplastic lymphoma kinase, Epstein-Barr virus, and human herpesvirus 8 detection analysis
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MERGAN F, JAUBERT F, SAUVAT F, HARTMANN O, LORTAT-JACOB S, REVILLON Y, NIHOUL-FEKETE C, SARNACKI S
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2005 - J. Pediat. Surg. 40(10):1581-1586 |
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BACKGROUND/PURPOSE: Inflammatory myofibroblastic tumor (IMT) is considered as an intermediate neoplasm that may present malignant features. Differential diagnosis with other tumor processes is sometimes difficult. Similar anaplastic lymphoma kinase (ALK) gene abnormalities as in anaplastic large cell lymphoma have been reported. Human herpesvirus 8 (HHV-8) DNA sequences have been described in adult pulmonary IMTs and Epstein-Barr virus (EBV) has been reported in splenic and hepatic IMTs, suggesting the importance of both viruses in IMT development. This article aims to evaluate ALK, EBV, and HHV-8 expression in children with IMT and to correlate our findings with clinical features. METHODS: Sixteen children (range, 1-15 years) who had surgery for IMT between 1978 and 2003 were evaluated retrospectively. Formalin-fixed, paraffin-embedded archival tissues were stained for HHV-8 and ALK with immunohistochemistry. Epstein-Barr virus was detected by in situ hybridization (EBER probes). RESULTS: Tumors were located in the pulmonary lobe (n = 4), urinary tract (n = 4), mesentery or bowel (n = 4), hepatic lobe (n = 1), vena cava (n = 1), spinal cord (n = 1), and soft tissue (n = 1). Five children were treated with steroids and/or antibiotics before surgery, with no substantial result. IMT was excised totally in all but 2 cases. Four patients presented aggressive IMT with recurrence or metastasis requiring new surgery. ALK was positive in 3 (18.8%) cases and EBV in 1 pulmonary and 1 bladder tumor, all of them without recurrence or metastasis. None of the cases were positive for HHV-8. All patients are now disease-free with a mean follow-up of 4.2 years. CONCLUSIONS: Considering the present lack of efficient medical treatment, surgery should still be considered as the mainstay therapy in IMT, even in cases of recurrence or metastases. Larger multicentric studies would be necessary to understand the prognostic significance of ALK, EBV, and HHV-8 and their relationships with the origins of the tumor.
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Unité(s) :
Chirurgie Pédiatrique, Anatomo-Pathologie
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Does surgical genitoplasty affect gender identity in the intersex infant?
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NIHOUL-FEKETE C
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2005 - Hormone Res. 64(Suppl.2):23-26 |
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There is no clear-cut answer to the question of whether surgical genitoplasty affects gender identity in the intersex infant. The debate centres around which is more important for the development of gender identity: the biological sex of a child or the sex in which a child is reared. We believe that the surgical achievement of a phenotype concordant with the sex of rearing is a tremendous help to the parents of an intersex infant. We do not consider that the 'neutral' upbringing of a child with ambiguous genitalia is a feasible option, first because of the parents' distress which prevents them from raising their child normally and second because in most cultures around the world gender variants are not treated as equals. A neutral upbringing may induce psychosocial consequences that are more pernicious than carefully considered neonatal sex attribution and concordant surgical genitoplasty.
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Unité(s) :
Chirurgie Pédiatrique
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Characterization of Hyperinsulinism in Infancy Assessed with PET and 18F-Fluoro-L-DOPA
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RIBEIRO MJ, DE LONLAY P, DELZESCAUX T, BODDAERT N, JAUBERT F, BOURGEOIS S, DOLLE F, NIHOUL-FEKETE C, SYROTA A, BRUNELLE F
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2005 - J. Nucl. Med. 46(4):560-566 |
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Hyperinsulinism (HI) of infancy is a neuroendocrine disease secondary to either focal adenomatous hyperplasia or a diffuse abnormality of insulin secretion of the pancreas. HI with focal lesions can revert by selective surgical resection in contrast to the diffuse form, which requires subtotal pancreatectomy when resistant to medical treatment. Neuroendocrine diseases are a heterogeneous group of entities with the ability to take up amine precursors and to convert them into biogenic amines. Therefore, the aim of this study was (a) to evaluate the use of PET with (18)F-fluoro-l-dihydroxyphenylalanine ((18)F-fluoro-l-DOPA) and (b) to distinguish between focal and diffuse HI. METHODS: Fifteen patients (11 boys, 4 girls) with neonatal HI were enrolled in this study. All patients fasted for at least 6 h before the PET examination and their medication was discontinued for at least 72 h. The examination was performed under light sedation (pentobarbital associated with or without chloral). The dynamic acquisition started 45-65 min after the injection of (18)F-fluoro-l-DOPA (4.0 MBq/kg weight). Four or 6 scans of 5 min each (2 or 3 steps according to the height of the patient) were acquired from the neck to the upper legs. RESULTS: An abnormal focal pancreatic uptake of (18)F-fluoro-l-DOPA was observed in 5 patients, whereas a diffuse uptake of the radiotracer was observed in the pancreatic area of the other patients. All patients with focal radiotracer uptake and also 4 of 10 patients with pancreatic diffuse radiotracer accumulation, unresponsive to medical treatment, underwent surgery. The histopathologic results confirmed the PET findings-that is, focal versus diffuse HI. CONCLUSION: The results of this study suggest that (18)F-fluoro-l-DOPA could be an accurate noninvasive technique to distinguish between focal and diffuse forms of HI.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Radiologie Pédiatrique, Métabolisme-Neurologie
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Prenatal diagnosis of pulmonary sequestration using three-dimensional power Doppler ultrasound
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RUANO R, BENACHI A, AUBRY MC, REVILLON Y, EMOND S, DUMEZ Y, DOMMERGUES M
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2005 - Ultrasound Obstet. Gynecol. 25(2):128-133 |
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OBJECTIVE: To investigate the contribution of three-dimensional power Doppler ultrasound to the prenatal diagnosis of pulmonary sequestration. METHODS: Prenatal three-dimensional power Doppler ultrasound was used to screen for an abnormal pulmonary blood supply in eight fetuses with hyperechogenic lung lesions and to image the pulmonary blood supply in 50 normal controls. A comparison was made with postnatal findings. RESULTS: Postnatally the eight pulmonary lesions were found to be an isolated pulmonary sequestration (n = 3), a microcystic congenital adenomatoid malformation (n = 4), and a mixed (macrocystic and microcystic) congenital adenomatoid malformation (n = 1). Prenatal three-dimensional power Doppler ultrasound demonstrated an abnormal blood supply in all cases of pulmonary sequestration and in none of the other cases. Among the three cases that turned out to be pulmonary sequestrations, conventional two-dimensional ultrasound failed to identify the feeding vessel in one case and identified it at a later stage of gestation than did three-dimensional power Doppler in the other two. CONCLUSION: Prenatal three-dimensional power Doppler ultrasound may be useful in identifying the feeding vessel and thus establishing the diagnosis of pulmonary sequestration in the presence of a hyperechogenic pulmonary lesion, allowing its differentiation from congenital cystic adenomatoid malformation. Copyright (c) 2005 ISUOG. Published by John Wiley & Sons, Ltd.
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Unité(s) :
Chirurgie Pédiatrique, Maternité
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Esophageal atresia diagnosed with three-dimensional ultrasonography
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YAGEL S, SONIGO P, ROUSSEAU V, SARNACKI S, COHEN S, BENACHI A
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2005 - Ultrasound Obstet. Gynecol. 26(3):307-308 |
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Unité(s) :
Chirurgie Pédiatrique, Maternité, Radiologie Pédiatrique
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Imaging of malignant tumours of the long bones in children: monitoring response to neoadjuvant chemotherapy and preoperative assessment
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BRISSE H, OLLIVIER L, EDELINE V, PACQUEMENT H, MICHON J, GLORION C, NEUENSCHWANDER S
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2004 - Pediat. Radiol. 34(8):595-605 |
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This review focuses on imaging of osteosarcoma and Ewing's sarcoma of the long bones in children during preoperative neoadjuvant chemotherapy. Morphological criteria on plain films and conventional static MRI are insufficiently correlated with histological response. We review the contribution of dynamic MRI, diffusion-weighted MR and nuclear medicine ((18)FDG-PET) to monitor tumoural necrosis. MRI is currently the best method to evaluate local extension prior to tumour resection, especially to assess the feasibility of conservative surgery. Quantitative models in dynamic MRI and (18)FDG-PET are currently being developed in order to find new early prognostic criteria, but for the time being, treatment protocols are still based on the gold standard of histological response.
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Unité(s) :
Traumatologie et Orthopédie Pédiatriques, Chirurgie Pédiatrique
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Radiologic case of the month. Pulmonary atresia discovered at age 10
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DE PONTUAL L, THY NP, VIGNAUD O, REVILLON Y, DE BLIC J, SELLIER N, GAUDELUS J
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2004 - Archives Pédiatrie 11(1):51-52 |
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Unité(s) :
Chirurgie Pédiatrique, Pneumologie-Allergologie Pédiatrique
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Clinical quiz. Choledocholithiasis with subsequent bile linkage
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FITZGERALD JF, TRONCONE R, RUEMMELE FM, LACAILLE F, JAN D, BRUNELLE F, REVILLON Y, GOULET O
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2004 - J. Pediat. Gastroenterol. Nutr. 38(3):281-283 |
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Unité(s) :
Chirurgie Pédiatrique, Gastroentérologie Pédiatrique, Radiologie Pédiatrique
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Lynch syndrome pediatric: about a case
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GALMICHE L, REVILLON Y, SARNACKI S, JAUBERT F
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2004 - Ann. Pathol. 24(6):621-623 |
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A duodenal carcinoma centered on the vater ampulla is reported in a child of 15 years with Lynch syndrome. This case illustrates the problem of early diagnosis and treatment of Lynch syndrome associated tumors.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique
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Acute Insulin Responses to Calcium and Tolbutamide Do Not Differentiate Focal from Diffuse Congenital Hyperinsulinism
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GIURGEA I, LABORDE K, TOUATI G, BELLANNE-CHANTELOT C, NASSOGNE MC, SEMPOUX C, JAUBERT F, KHOA N, CHIGOT V, RAHIER J, BRUNELLE F, NIHOUL-FEKETE C, DUNNE MJ, STANLEY C, SAUDUBRAY JM, ROBERT JJ, DE LONLAY P
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2004 - J. Clin. Endocrinol. Metabol. 89(2):925-929 |
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Congenital hyperinsulinism (CHI) is related to two main histological pancreas anomalies: focal adenomatous hyperplasia and diffuse beta-cell hypersecretion. Pharmacological tests to measure acute insulin responses (AIR) to peripheral iv injections of glucose, calcium, and tolbutamide have been reported as potential means to distinguish between these histological forms. In patients with defects in ATP-sensitive potassium channels, tolbutamide will fail to induce insulin release in affected portions of the pancreas, whereas calcium gluconate will enhance insulin release through spontaneously active voltage-gated Ca(2+) channels. Consequently, in focal CHI patients, calcium should promote AIRs from the lesion, whereas tolbutamide should act to promote insulin secretion from the healthy region of the pancreas (outside the focal hyperplasia). We therefore studied AIRs to calcium and tolbutamide stimulation tests in 16 children with focal (n = 9) or diffuse (n = 7) CHI before pancreatic surgery. We found hypervariable AIRs to glucose and calcium stimulation in both focal and diffuse CHI patients. AIRs to tolbutamide stimulation were found modest in focal CHI patients, which might account for beta-cell quiescence in the healthy portion of the pancreas of these patients. We conclude that AIRs to calcium and tolbutamide stimulation tests are not sufficient to differentiate the focal from the diffuse CHI patients.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Département de Pédiatrie, Radiologie Pédiatrique
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Hermaphroditism pathology
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JAUBERT F, NIHOUL-FEKETE C, LORTAT-JACOB S, JOSSO N, FELLOUS M
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2004 - Rom. J. Morphol. Embryol. 45(41-51 |
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Hermaphroditism is a more general term for the discrepancy between the phenotype and the genotype of sex development than sexual ambiguity, which refers mainly to external genitalia anomalies. Hermaphroditism is studied on an historical and pathogenetical perspective. Short embryological summaries are integrated. The defects of sexual differentiation due to a hormonal deficiency are first studied: androgen insensitivity, steroid 5 alpha-reductase 2 deficiency, defects of testosterone synthesis, persistent mullerian ducts syndrome. Sexual determinism deficiencies come after: Turner syndrome, XX males, pure gonadal dysgenesis, and true hermaphroditism, mixed gonadal dysgenesis, Drash and Frasier syndrome. Tumors of dysgenetic gonads followed. Mixed tumors developed in dysgenetic gonads are gonadoblastoma and dysgerminoma. Sex cord tumors are androgen insensitivity associated tumors, Leydig cells tumors and adrenal cell inclusion tumors. New perspectives open by sex reversion genes are open.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique
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Hermaphroditism pathology
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JAUBERT F, NIHOUL-FEKETE C, LORTAT-JACOB S, JOSSO N, FELLOUS M
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2004 - Ann. Pathol. 24(6):499-509 |
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Hermaphroditism is a general term refering to all discrepancies between phenotype and genotype of sex development. It must be preferred to sexual ambiguity which refers mainly to external genitalia anomalies. Hermaphroditism is studied on an historical and pathogenetical perspective. Short embryological summaries are integrated. The defects of sexual differentiation due to hormone deficiency are first studied : androgen insensitivity, steroid 5 alpha-reductase 2 deficiency, defects of testosterone synthesis, persistant mullerian ducts syndrome. Sexual determinism deficiencies ore then presented: Turner syndrome, XX males, pure gonadal dysgenesis, true hermaphroditism, mixed gonadal dysgenesis, Drash and Frasier syndrome. Tumors of dysgenetic gonads followed. Mixed tumors developed in dysgenetic gonads ore gonadoblastoma and dysgerminoma. Sex cord tumors are androgen insensitivity associated tumors, Leydig cells tumors and adrenal cell inclusion tumors. Sex reversion genes open new perspectives.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique
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Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresia
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KHEN N, JAUBERT F, SAUVAT F, FOURCADE L, JAN D, MARTINOVIC J, VEKEMANS M, LANDAIS P, BROUSSE N, LEBORGNE M, NIHOUL-FEKETE C, CERF-BENSUSSAN N, SARNACKI S
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2004 - Pediat. Res. 56(6):975-980 |
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Intestinal motility disorders are a major cause of morbidity after surgical repair of intestinal atresia of unknown mechanism. We hypothesized that interruption of antenatal peristalsis may disturb the normal development of the enteric nervous system. Using a series of neuronal (synaptophysin, neuronal nitric oxide synthase, neurofilaments) and nonneuronal markers (glial acidic fibrillary protein and c-Kit) and immunohistochemistry, we have defined developmental steps of the enteric nervous system in normal intestine (12 fetuses, 15 children, and 4 adults) and their alterations above and below the obstacle in 22 human intestinal atresia compared with age-matched controls. Antisynaptophysin antibody revealed the progressive conversion of the myenteric plexus from a continuous belt into regularly spaced ganglions during normal fetal gut development and, by contrast, the significantly delayed appearance of individual neuronal ganglions in the distal segments of atresia (p < 0.05). Staging using three other markers for neuronal (neurofilaments and neuronal nitric oxide synthase) and nonneuronal cells (glial acidic fibrillary protein) confirmed that maturation of the myenteric plexus was significantly delayed below atresia (p < 0.01). These results indicate that intestinal atresia impairs the development of the enteric nervous system and provide an anatomical substrate for the motility disorders observed after surgical repair. They point to the role of peristalsis in normal gut development and suggest that stimulation of peristalsis might be used to accelerate recovery.
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Unité(s) :
Anatomo-Pathologie, Biostatistique, Chirurgie Pédiatrique, E 0212, Histo-Embryologie & Cytogénétique
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The Isabel Forshall Lecture. Surgical management of the intersex patient: an overview in 2003
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NIHOUL-FÉKÉTÉ C
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2004 - J. Pediat. Surg. 39(2):144-145 |
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Unité(s) :
Chirurgie Pédiatrique
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The surgical management of congenital hyperinsulinemic hypoglycemia in infancy
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NIHOUL-FEKETE C, DE LONLAY P, JAUBERT F, RAHIER J, BRUNELLE F, SAUDUBRAY JM
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2004 - J. Pediat. Surg. 39(3):267-269 |
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BACKGROUND: Congenital hyperinsunlinism (CHI) is characterized by profound hypoglycaemia caused by inappropriate insulin secretion. CHI is a heterogeneous disorder with at least 2 histologic lesions and several implicated genes. If CHI is caused by a focal lesion, elective surgery is the only treatment because it leads to complete recovery without diabetes; on the contrary, diffuse CHI can only be cured by near-total pancreatectomy, and medical treatment, if efficient, is preferable. It is therefore mandatory to distinguish the 2 forms of CHI, and the surgeon has to fullfill his role in the multidisciplinary team that deals with CHI. METHODS: A total of 134 patients with CHI were investigated both radiologically and with molecular biology. Pathology was the only proof of focal or diffuse lesions, and the pancreatic tissue could be studied by electrophysiology (Katp and Ca channels) and gene study. RESULTS: In 59 infants with CHI, a focal lesion was suspected by radiology and proved by extemporaneous pathology; partial pancreatectomy (33 tail body, 19 head, 5 isthmus resections) was performed, and molecular biology and histochemistry confirmed the genetic lesion specific to the focal disease; 75 near-total pancreatectomies were necessary in diffuse disease to prevent brain damage. CONCLUSIONS: CHI is a severe brain-threatening disease. Surgery is indicated in all focal diseases, providing they are diagnosed preoperatively. In diffuse disease with resistance to medical treatment, near-total pancreatectomy is a last resort option that hopefully will be improved in the future with culture of beta cells and genetic modification of the beta cell disease before autograft.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Métabolisme-Neurologie Génétique Pédiatrique, Radiologie
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Prenatal sonographic diagnosis of congenital hiatal hernia
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RUANO R, BENACHI A, AUBRY MC, BERNARD JP, HAMEURY F, NIHOUL-FEKETE C, DUMEZ Y
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2004 - Prenatal Diag. 24(1):26-30 |
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OBJECTIVES: To report a rare case of congenital hiatal hernia illustrating the importance of its prenatal diagnosis as well as to discuss the prenatal sonographic criteria. CASE REPORT: A case of congenital hiatal hernia was diagnosed by ultrasound at 33 weeks of gestation. After a normal second-trimester morphologic ultrasound examination, a hypoechogenic mass was detected in the posterior mediastinum juxtaposed to the vertebral body and seemed to be in continuity with the intra-abdominal stomach bubble. Congenital hiatal hernia was suspected mainly because of the dynamic position of the stomach during the examination, without mediastinal shift, and normal appearance of the diaphragm on parasagittal sections of the thorax. Postnatal management was planned with no urgency and surgery was successfully performed, confirming the diagnosis. CONCLUSION: This rare case illustrates the importance of prenatal diagnosis of congenital hiatal hernia for prenatal counseling and postnatal management. The ultrasound criterion for prenatal diagnosis is the presence of a herniated stomach in the posterior mediastinum, sometimes having a dynamic position during examination, with no mediastinal shift associated with normal diaphragm appearance on parasagittal sections of the thorax.
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Unité(s) :
Chirurgie Pédiatrique, Maternité
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NEW PERSPECTIVES FOR CHILDREN WITH MICROVILLOUS INCLUSION DISEASE: EARLY SMALL BOWEL TRANSPLANTATION
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RUEMMELE FM, JAN D, LACAILLE F, CEZARD JP, CANIONI D, PHILLIPS AD, PEUCHMAUR M, AIGRAIN Y, BROUSSE N, SCHMITZ J, REVILLON Y, GOULET O
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2004 - Transplantation 77(7):1024-1028 |
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BACKGROUND.: Microvillous inclusion disease (MVID) is a congenital intestinal epithelial cell disorder leading to lifelong intestinal failure. Despite long-term total parenteral nutrition, life expectancy is extremely reduced because of metabolic or septic complications or liver failure. METHODS.: Twelve patients with early-onset MVID were evaluated between 1995 and 2002 for the possibility of small bowel transplantation (SbTx). Three patients died before they could be placed on the waiting list for SbTx, and one patient is still awaiting SbTx. SbTx was contraindicated in one patient. RESULTS.: Seven of 12 patients (six boys and one girl) underwent transplantation (three SbTxs and four combined liver-SbTxs). Actuarial survival rates were 100% and 75% in the SbTx and combined liver-SbTx groups, respectively, with a mean follow-up of 3 years (1.1-8.5 years). In contrast, the survival rate was only 40% in the subgroup of five patients who did not undergo transplantation. After transplantation, all patients were weaned from parenteral nutrition: the five patients with an additional colon graft were weaned within 36 days as opposed to the others without colonic transplant who obtained full intestinal autonomy several months after transplantation. The only two surviving patients who did not undergo SbTx remain highly dependent on total parenteral nutrition, which is complicated by repeated episodes of metabolic decompensation. CONCLUSIONS.: SbTx alone or in combination with the liver is highly successful in children with MVID, offering them a long-term perspective for the first time. Associated colon grafting markedly improves the outcome and quality of life after SbTx in patients with MVID.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Département de Pédiatrie, Gastroentérologie Pédiatrique
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Severe functional constipation in child: what is the solution?
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SAUVAT F
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2004 - J. Pediat. Gastroenterol. Nutr. 38(1):10-11 |
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Unité(s) :
Chirurgie Pédiatrique
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Cadherins in Wilms' tumor: E-cadherin expression despite absence of WT1
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BAUDRY D, CABANIS MO, PATTE C, ZUCKER JM, PEIN F, FOURNET JC, SARNACKI S, JUNIEN C, JEANPIERRE C
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2003 - Anticancer Res. 23(1A):475-478 |
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Loss of heterozygosity of chromosome 16q occurs in 17-25% of Wilms' tumors. Two cadherin genes mapping to16q22 were chosen as candidate genes: E-CAD, encoding epithelial cadherin, because it is involved in kidney development and it was recently reported to be a WT1 target; and KSP-CAD because it encodes a kidney-specific cadherin. By RT-PCR analysis in a series of 39 Wilms' tumors, we identified a very low expression of E-CAD and KSP-CAD in 72% and 95% of the tumors, respectively. To ascertain whether down-expression of these genes could be related to WT1 alterations in tumors, we looked for a relationship between WT1 and CAD expression. Our data suggest (i) the existence of alternative mechanisms for regulating E-CAD expression, and (ii) that E-CAD does not belong to the WT1 pathway that is altered in Wilms' tumorgenesis.
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Unité(s) :
U383, Chirurgie Pédiatrique, Anatomo-Pathologie
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Vascular ring abnormalities: A retrospective study of 62 cases
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BONNARD A, AUBER F, FOURCADE L, MARCHAC V, EMOND S, REVILLON Y
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2003 - J. Pediat. Surg. 38(4):539-543 |
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BACKGROUND: The authors analyzed clinical signs of vascular ring anomalies together with appropriate complementary examinations and factors predictive of outcome after surgical treatment. METHODS: The authors reviewed the files of 62 patients with vascular ring abnormalities treated at Necker-Enfants Malades Hospital between January 1990 and January 2000, to analyze age at symptom onset, results of paraclinical examinations, the type of vascular ring abnormality, the surgical indications and type of surgery, and postoperative outcome. Outcomes were divided into 3 categories: cure, partial improvement, and no improvement. The chi(2) test corrected with Fischer's Exact test was used for statistical analysis. RESULTS: Vascular ring abnormalities were diagnosed at birth in 28% of cases and during the first year of life in 68%. Sixteen percent of patients had associated abnormalities. Recurrent pulmonary and bronchial infections occurred after one year of age. An esophagogram was done in 76% of cases and showed impression images. Endoscopy was done in 63% of cases and showed malacia in 41% of patients and stenosis in 51%. Fifty-eight children were treated surgically. The average hospital stay was 7.4 days. The average follow-up was 37.4 months (12 to 159 months). Complete improvement was obtained in 68% of cases, partial improvement in 17%, and no improvement in 15%. Preoperative malacia was more frequent in patients with partial improvement or no improvement. CONCLUSIONS: Surgical treatment of congenital vascular ring abnormalities is effective and safe. Complications are rare. Prognostic factors include the quality of preoperative preparation of respiratory function, the type of abnormality, and the degree of malacia. J Pediatr Surg 38:539-543.
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Unité(s) :
Radiologie Pédiatrique, Pneumologie-Allergologie Pédiatrique, Chirurgie Pédiatrique
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Aneurysmal bone cyst of the spine in children: a 9-year follow-up of 7 cases and review of the literature
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DEKEUWER P, ODENT T, CADILHAC C, JOURNEAU P, LANGLAIS J, PADOVANI JP, GLORION C, POULIQUEN JC
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2003 - Rev. Chir. Orthop. Réparat. App. Mot. 89(2):97-106 |
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Purpose of the study Aneurysmal cyst is an uncommon benign primitive bone tumor generally observed in young subjects, in a spinal localization in 10% of the cases. We report the clinical, radiological, and therapeutic aspects of seven cases of aneurysmal cyst of the spine. Material and methods This series included seven children, mean age 11.7 years (range 8-14) who were followed for 9 years on the average (range 2-24 years). Findings were compared with reports in the literature. Results Four cysts were located in the cervical spine (C1, C3, C4, C7), two in the thoracic spine (T4, T7) and one in the sacrum. Biopsy-resection was performed in six patients. The sacral cyst was treated by selective arterial embolization. Two complications were observed after surgical treatment. Bony filling of the lesion, evaluated by CT scan six months after surgery, was achieved in five. cases, incomplete in two without recurrence of cystic cavities. Discussion and conclusion Aneurysmal bone cysts account for 15% of all primitive tumors of the spine. They are more frequent in the cervical and thoracic spine than in a lumbar or sacral localization. One vertebra. is involved in most cases, generally the vertebral body and the posterior arch with an asymmetrical extension to one pedicle in some cases. Neurological complications of variable severity are frequent and can be improved by surgical removal of the tumor. CT scan and MRI are the best exams to analyze the spinal cyst to show, bony walls and liquid-liquid levels suggestive of aneurysmal bone cyst, to evaluate the tumor extension and to search for cord compression. When the CT scan and MRI show. characteristic signs of aneurysmal bone cyst of the spine, we do not perform a biopsy systematically if complete removal of the tumor appears, possible. Surgical removal with biopsy is the treatment of choice. Reconstruction and stabilization of the spine must be complete using bone graft with or without instrumentation. In case of medullary, involvement, decompression must be performed rapidly with the most complete tumor removal as possible. Selective arterial embolization can be used in some localizations or as preparation to surgery: Radiotherapy is contraindicated in children. because of the risk of radio-induced tumors.
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Unité(s) :
Chirurgie Pédiatrique, Traumatologie et Orthopédie Pédiatriques
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Intestinal transplantation
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GOULET O, REVILLON Y
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2003 - Indian J. Pediatr. 70(9):737-742 |
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Advances in immunosuppressive treatment as well as better monitoring and control of acute rejection have brought intestinal transplantation (ITx) into the realm of standard treatment for permanent intestinal failure. The results from the intestinal Transplant International Registry (www.intestinaltransplant.org) indicate that ITx is currently an acceptable clinical modality for selected patients with permanent intestinal failure. The goal of this short review is to deal with indications, clinical results and complications of ITx. Although it has been used in humans for the past two decades, very few data are available regarding graft function and its monitoring.
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Unité(s) :
Gastroentérologie Pédiatrique, Chirurgie Pédiatrique
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Gonad development in Drash and Frasier syndromes depends on WT1 mutations
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JAUBERT F, VASILIU V, PATEY-MARIAUD DE SERRE N, AUBER F, JEANPIERRE C, GUBLER MC, NIHOUL-FEKETE C, FELLOUS M
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2003 - Arkh. Patol 65(2):40-44 |
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The study of the gonads of 8 cases of Drash syndrome (6 ambiguous males, 2 females) and of 2 Frasier syndrome shows that WT1 mutations gives a dysgenetic testis which is the cause of the genital ambiguity observed at birth. By contrast the same mutations have no effect on ovary development giving normal females. However intron mutations in KTS with isoforms imbalance of WT1 proteins cause streak gonads with a female phenotype in XY patients. In consequence WT1 mutations are the cause of a spectrum of male genital malformations associated with glomerulonephritis and tumors. The absence of WT1 protein detection in sertoli cells shown by immunohistochemistry for 3 cases suggests an imprinting effect of the normal WT1 allele promotor rather than a low level of protein production. A caryotype is mandatory for a correct diagnosis.
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Unité(s) :
Néphrologie Pédiatrique, Chirurgie Pédiatrique, Anatomo-Pathologie, U383
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Evaluation of the donor for living-related liver transplantation
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LACAILLE F, SOMMACALE D, BELGHITI J, REVILLON Y
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2003 - Transplant. Proc. 35(3):960 |
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Unité(s) :
Département de Pédiatrie, Chirurgie Pédiatrique
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Results of living-related liver transplantation and biliary complications in Paris
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LACAILLE F, SOMMACALE D, EDMOND S, FARGES O, BELGHITI J, JAN D, REVILLON Y
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2003 - Transplant. Proc. 35(3):961 |
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Unité(s) :
Chirurgie Pédiatrique
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Authors' response: regarding the consensus statement on 21-hydroxylase deficiency from the lawson wilkins pediatric endocrine society and the European society for paediatric endocrinology
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MILLER WL, OBERFIELD SE, SPEISER PW, BASKIN LS, DONAHOE PK, NIHOUL-FEKETE C, HUTSON JM, POPPAS DP
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2003 - J. Clin. Endocrinol. Metabol. 88(7):3456 |
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Unité(s) :
Chirurgie Pédiatrique
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Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Management
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PINTO G, TARDY V, TRIVIN C, THALASSINOS C, LORTAT-JACOB S, NIHOUL-FEKETE C, MOREL Y, BRAUNER R
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2003 - J. Clin. Endocrinol. Metabol. 88(6):2624-2633 |
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The phenotype of congenital adrenal hyperplasia (CAH) varies greatly. The purpose of this study was to optimize diagnosis and follow-up by comparing phenotype with genotype. Sixty-eight patients with CAH due to 21-hydroxylase deficiency were studied by clinical, hormonal, and molecular genetic methods. Patients were classified according to predicted mutation severity: group 0, null mutation (17.6%); group A, homozygous for IVS2 splice mutation or compound heterozygous for IVS2 and null mutations (33.8%); group B, homozygous or compound heterozygous for I172N mutation (14.7%); group C, homozygous or compound heterozygous for V281L or P30L mutations (26.5%); and group D, mutations with unknown enzyme activity (7.4%). All group 0 and A patients had the salt-wasting form, and group C had nonclassical forms. Group B included five salt-wasting and five simple virilizing forms. Groups 0 and A were younger at diagnosis (P < 0.02), and females were more virilized than those in group B. Group B had higher basal plasma 17-hydroxyprogesterone (564 +/- 162 nmol/liter) and testosterone (11 +/- 3 nmol/liter) levels than group C [59 +/- 13 nmol/liter (P < 0.001) and 1.4 +/- 0.2 nmol/liter (P < 0.005), respectively]. Hydrocortisone doses given to groups 0, A, and B were similar at all ages, but lower in group C (P < 0.01). Final height was below target height in classical (n = 16; -2 +/- 0.2 SD score; P < 0.02) and nonclassical (n = 11; -1.2 +/- 0.4 SD score; P < 0.03) forms. The severity of the genetic defects and the clinical-laboratory features are well correlated. Genotyping, combined with neonatal screening and optimal medical and surgical treatment, can help in the management of CAH.
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Unité(s) :
Endocrinologie et Croissance, Chirurgie Pédiatrique
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Improved quality of life by combined transplantation in Hirschsprung's disease with a very long aganglionic segment
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REVILLON Y, AIGRAIN Y, JAN D, YANDZA T, GOULET O, LACAILLE F
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2003 - J. Pediat. Surg. 38(3):422-424 |
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Background/Purpose: The treatment of children with Hirschsprung's disease beginning in the proximal jejunum remains a challenge for the pediatric surgeon. These patients need a definitive parenteral nutrition, which could lead to a liver impairment. The goal of this work is to assess the quality of life after combined liver, intestine, and right colon transplantation. METHODS: This is a retrospective study of 3 patients. Data regarding symptomatology, radiographic and operating findings, postoperating recovery, and quality of life were analyzed and compared with the quality of life before the transplantation. RESULTS: The suspicion of a very long intestinal aganglionosis should be derived from the intestinal biopsies. Three combined liver, intestine, and right colon transplantation operations have been performed. The immunosuppression included steroids, tacrolimus, and azathioprine. An abdominal pull-trough (Duhamel procedure 2, Swenson procedure 1) was performed from 6 to 24 months after the transplantation. The follow-up after the transplantation ranges from 2 to 6 years. These 3 patients are completely off total parenteral nutrition with bowel movements 2 to 3 times a day. Two patients are continent day and night, and one is continent during the day only. CONCLUSIONS: Intestinal transplantation is feasible with good results even when a liver impairment needs a combined intestine and liver transplantation. The right colon transplantation, in our experience, does not impair the results. The quality of life after the transplantation is better than before. J Pediatr Surg 38:422-424.
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Unité(s) :
Gastroentérologie Pédiatrique, Chirurgie Pédiatrique
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Management of asymptomatic neonatal cystic adenomatoid malformations
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SAUVAT F, MICHEL JL, BENACHI A, EMOND S, REVILLON Y
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2003 - J. Pediat. Surg. 38(4):548-552 |
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Background/Purpose: Although much is known about the prenatal course of cystic adenomatoid malformations (CCAM), the postnatal course of asymptomatic lesion is less well documented. The authors studied the pre- and postnatal course and treatment of asymptomatic CCAM. METHODS: The authors reviewed the files of all patients referred to Necker-Enfants Malades hospital with an antenatal diagnosis of CCAM and asymptomatic at birth. RESULTS: Files of 29 patients were studied. The first x-ray film was considered normal in 12 cases (41.3%). Computed tomography was normal in 4 cases and showed cystic lung malformations in the other patients. Postnatally, clinical manifestations occurred in 3 patients (10.3%). CCAM vanished in 6 cases. Surgical resection of CCAM was performed in 17 cases (58.6%). All the patients currently are asymptomatic. CONCLUSIONS: CCAM can shrink or vanish during pregnancy and antenatal ultrasound findings are not predictive of the postnatal course. Thus, all infants with prenatal diagnosis of CCAM require postnatal evaluation. Normal radiographic findings at birth do not rule out CCAM persistence on CT. The treatment of asymptomatic CCAM is controversial. Surgery may be advocated because of the low morbidity and the prevention of late complications, above all, cancer. The surgical indications of small (<3 cm) and asymptomatic lesions should be discussed on a case-by-case basis with the parents. J Pediatr Surg 38:548-552.
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Unité(s) :
Radiologie Pédiatrique, Chirurgie Pédiatrique
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The Focal Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy: Morphological and Molecular Studies Show Structural and Functional Differences With Insulinoma
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SEMPOUX C, GUIOT Y, DAHAN K, MOULIN P, STEVENS M, LAMBOT V, DE LONLAY P, FOURNET JC, JUNIEN C, JAUBERT F, NIHOUL-FEKETE C, SAUDUBRAY JM, RAHIER J
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2003 - Diabetes 52(3):784-794 |
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Paternal mutation of ATP-sensitive K(+) (K(ATP)) channel genes and loss of heterozygosity (LOH) of the 11p15 region including the maternal alleles of ABCC8, IGF2, and CDKN1C characterize the focal form of persistent hyperinsulinemic hypoglycemia of infancy (FoPHHI). We aimed to understand the actual nature of FoPHHI in comparison with insulinoma. In FoPHHI, the lesion consists in clusters of beta-cells surrounded by non-beta-cells. Compared with adjacent islets, proinsulin mRNA is similar and proinsulin production higher (P
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Unité(s) :
U383, Chirurgie Pédiatrique, Anatomo-Pathologie, Métabolisme-Neurologie Génétique Pédiatrique
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Update on criteria for cadaveric donor selection for liver transplantation
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YANDZA T, AUBERT F, FOURCADE L, JAN D, LACAILLE F, HUBERT P, REVILLON Y
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2003 - Gastroentérol. Clin. Biol. 27(2):163-175 |
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Unité(s) :
Réanimation Pédiatrique, Chirurgie Pédiatrique
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Changes in WT1 splicing are associated with a specific gene expression profile in Wilms' tumour
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BAUDRY D, FAUSSILLON M, CABANIS MO, RIGOLET M, ZUCKER JM, PATTE C, SARNACKI S, BOCCON-GIBOD L, JUNIEN C, JEANPIERRE C
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2002 - Oncogene 21(36):5566-5573 |
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Wilms' tumour (WT) or nephroblastoma is the most frequent kidney cancer in children. In a previous study, we reported alterations to WT1 transcription in 90% of WT tested, with decreased exon 5 +/- isoform ratio being the most frequent alteration (56% of WT). We now report an approach based on cDNA profiling of tumour pools to identify genes likely to be dysregulated in association with a decreased WT1 exon 5 +/- ratio. We compared the expression profiles of pools of tumours classified according to whether this isoform imbalance was present (five tumours) or not (four tumours), using Atlas Cancer cDNA expression arrays. Fourteen of 588 genes tested displayed specific up-regulation (CCND2, PCNA, N-MYC, E2F3, TOP2A, PAK1, DCC and PCDH2) or down-regulation (VEGF, IGFBP5, TIMP3, ARHB, C-FOS and CD9) in the pool of tumours with decreased exon 5 +/- ratio. These results were validated by RT-PCR analysis of four genes (CCND2, PCNA, VEGF and IGFBP5). We extended the analysis of VEGF expression to 51 tumours by real-time RT-PCR and ascertained differential expression of this gene associated with WT1 expression pattern. Moreover, our results suggest that the VEGF expression level may be of prognosis relevance for relapsed patients. doi:10.1038/sj.onc.1205752
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Unité(s) :
Chirurgie Pédiatrique, U383
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Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000
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CRETOLLE C, NIHOUL-FEKETE C, JAN D, NASSOGNE MC, SAUDUBRAY JM, BRUNELLE F, RAHIER J
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2002 - J. Pediat. Surg. 37(2):155-158 |
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Background/Purpose: Permanent hyperinsulinemic hypoglycaemia in infancy (PHHI)I is a severe disease that leads to brain damage. Since 1989, pathologists have identified 2 different forms of the disease: a diffuse form (DiPHHI) and a focal form (FoPHHI). The purpose of this study was to adapt surgical techniques in case of FoPHHI to cure these infants without risk of diabetes.Methods: All patients with PHHI underwent pancreatic venous sampling (PVS) and elective partial pancreatectomy (EPP). Molecular biology and immunohistochemistry were used to ascertain that FoPHHI was a different disease from DiPHHI.Results: 45 EPPs were performed, guided by PVS and per-operative pathology. The lesions were 17 in the head, 4 in the isthmus, 6 in the body, 15 in the tail of the pancreas. Age at surgery ranged from 25 days to 4 years. Two patients already had been operated on elsewhere, and the focal lesion could be found at second operation. All 45 patients except one, were cured with euglycemia at both fasting and hyperglycaemic tests. Molecular biology has shown a specific anomaly in FoPHHI, which never has been encountered in DiPHHI.Conclusions: PHHI is not a homogeneous disease. In one third of cases, only a small amount of endocrine pancreas is abnormal, and conservative surgery is mandatory. The pre-and perioperative conditions to point out the focal pancreatic lesion are described. Copyright (C) 2002 by W.B. Saunders Company.
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Unité(s) :
Chirurgie Pédiatrique, Métabolisme-Neurologie Génétique Pédiatrique, Radiologie Pédiatrique
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Management of 46,XY partial gonadal dysgenesis - revisited
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CRONE J, AMANN G, GHERARDINI R, KIRCHLECHNER V, NIHOUL-FEKETE C, WALDHAUSER F
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2002 - Wien. Klin. Wochenschr. 114(12):462-467 |
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46,XY partial gonadal dysgenesis is a rare condition characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and usually absence of regression of Mullerian structures. The management of patients with these disorders warrants revisiting, owing to recent molecular biological findings and to reports on the long-term outcome of individuals with ambiguous genitalia.
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Unité(s) :
Chirurgie Pédiatrique
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Facial appearance in persistent hyperinsulinemic hypoglycemia
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DE LONLAY P, CORMIER-DAIRE V, AMIEL J, TOUATI G, GOLDENBERG A, FOURNET JC, BRUNELLE F, NIHOUL-FEKETE C, RAHIER J, JUNIEN C, ROBERT JJ, SAUDUBRAY JM
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2002 - Amer. J. Med. Genet. 111(2):130-133 |
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Persistent hyperinsulinism is the most common cause of recurrent hypoglycemia in infancy because of inappropriate oversecretion of insulin by the pancreas. Pancreatic lesions can be either focal or diffuse, and they have distinct molecular bases. We have studied the facial features in 17 unrelated patients presenting with neonatal (n = 8) or infancy-onset (n = 9) hyperinsulinism. Hyperinsulinism was related to focal adenomatous hyperplasia (n = 7), diffuse hyperinsulinism (n = 5), non-operated hyperinsulinism (n = 2), and hyperinsulinism with hyperammonemia (n = 3). SUR1 or Kir6.2 mutations were found in six of seven focal adenomatous hyperplasia and three of five diffuse hyperinsulinism. A loss of the maternal allele from chromosome 11p15 in the lesion was found in all focal adenomatous hyperplasia. GLUD1 mutations were found in all patients with hyperammonemia. Large birth weight (mean > 3,800 g) was consistently observed (11/17) but protruding tongue, exomphalos, or visceromegaly were never noted and Wiedemann-Beckwith syndrome could always be ruled out. All patients presented with high forehead, small nasal tip, and short columella giving the impression that the nose is large and bulbous, smooth philtrum, and thin upper lip. A square appearance to the face was more obvious in younger patients. These specific facial features, observed in patients with hyperinsulinism of various molecular mechanisms, could be the consequence of fetal intoxication by insulin. However, to date, facial anomalies have not been noted in infants of diabetic mothers and inversely, malformations that are commonly reported in infants of diabetic mothers were not present in our hyperinsulinemic patients.
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Département de Pédiatrie, Métabolisme-Neurologie Génétiqu
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Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. a series of 175 cases
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DE LONLAY P, FOURNET JC, TOUATI G, GROOS MS, MARTIN D, SEVIN C, DELAGNE W, MAYAUD C, CHIGOT V, SEMPOUX C, MARIE-CLAIRE CS, LABORDE BK, BELLANE-CHANTELOT C, VASSAULT A, RAHIER J, JUNIEN C, BRUNELLE F, NIHOUL-FEKETE C, SAUDUBRAY JM, ROBERT JJ
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2002 - Eur. J. Pediat. 161(1):37-48 |
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Hyperinsulinism is a heterogeneous disorder characterised by severe hypoglycaemia due to an inappropriate oversecretion of insulin. In a personal series of 175 patients investigated for hyperinsulinaemic hypoglycaemia over the last 20 years, we review clinical presentations, molecular studies and therapeutic management of hyperinsulinism. There were 98 neonatal-onset patients, including 86 permanent hyperinsulinism and 12 transient forms, 68 with infancy-onset and nine with childhood-onset. Hyperammonaemia was found in 12 out of 69 patients tested, 4 neonates and 8 infants. Neonates were clinically more severely affected than infants. Diagnosis of infancy-onset hyperinsulinism was often delayed because of less profound hypoglycaemia and better tolerance to hypoglycaemia. Neonates required higher rates of iv glucose than infants to maintain normal plasma glucose levels (16 mg/kg per min versus 12 mg/kg per min). Only 16% of neonates were diazoxide-sensitive compared to 66% of the infants. Neonates with hyperammonaemia or transient hyperinsulinism were diazoxide-sensitive. Most neonates were pancreatectomised whereas 65% of the infants were treated medically. Among surgically-treated patients, 47% had a focal adenomatous hyperplasia (31 neonates and 13 infants) and 53% a diffuse form of hyperinsulinism (39 neonates and 11 infants). Diazoxide-responsiveness in the focal and diffuse forms did not differ in both neonates and infants; it depended only upon the age of onset of hypoglycaemia. One or two mutations, SUR1 or KIR6.2, were found in 41 of 73 neonates who were investigated and in 13/38 infants using polymerase chain reaction-single strand conformational polymorphism analysis of both genes. Almost all patients with SUR1 (38/41) or KIR6.2 (5/7) mutations were resistant to diazoxide. Ten patients with hyperinsulinism-hyperammonaemia syndrome had a mutation in the glutamate dehydrogenase gene (three neonates and seven infants) after reverse transcriptase-polymerase chain reaction and sequence analysis of cDNA. No mutation was found by polymerase chain reaction-single strand conformational polymorphism in the glucokinase gene. Eight of nine patients with childhood onset hyperinsulinism were treated surgically and histological examination confirmed an adenoma in each case. Conclusion: the clinical severity of hyperinsulinism varies mainly with age at onset of hypoglycaemia. The heterogeneity of hyperinsulinism has major consequences in terms of therapeutic outcome and genetic counselling. [References: 27]
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Unité(s) :
Anatomo-Pathologie, Fédération de Pédiatrie, Radiologie Pédiatrique, Chirurgie Pédiatrique, U383, Bi
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Indications and results of surgery in patients with Crohn's disease with onset under 10 years of age: a series of 18 patients
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DOKUCU AI, SARNACKI S, MICHEL JL, JAN D, GOULET O, RICOUR C, NIHOUL-FEKETE C
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2002 - Eur. J. Pediatr. Surg. 12(3):180-185 |
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In order to examine the presentation and course of Crohn's disease (CD) with an onset of CD before the age of 10 and to assess indications and effects of surgery, a retrospective study was performed in 18 children. One hundred and twenty-two children with CD have been followed over the last 22 years in our institution. Thirty of them had the first onset of disease before 10 years of age. Eighteen out of these 30 underwent intestinal resection (IR). The mean age at the onset of CD was 6.4 years and the average duration of follow-up was 11.1 years. Most common symptoms were abdominal pain (72 %), diarrhoea (72 %), and growth retardation (50 %). Colon and ileum were the most frequently involved areas. Most of the children (94.5 %) received extensive medical and or nutritional treatment before surgery. We performed 26 IRs and 14 other operations in 18 patients. Indications for IR were chronic intestinal obstruction (13 cases) and chronic intestinal disability (13 cases). Improvements in the general clinical state were obtained in 17 cases out of 18. IR is beneficial for chronically ill children with ineffective medical therapy. A disease-free interval after surgery may provide an important time for improved growth and pubertal development and a return to nearly normal life for a long time.
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Unité(s) :
Chirurgie Pédiatrique, Gastroentérologie Pédiatrique
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A two-step strategy for enlargement of left arterial branch in a living related liver graft with dual arterial supply
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DOUARD R, MARIA-ETTORRE G, SOMMACALE D, JAN D, REQVILLON Y, FARGES O, BELGHITI J
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2002 - Transplantation 73(6):993-994 |
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The use of small caliber arteries is probably responsible for the higher hepatic artery thrombosis rate initially reported after living related liver transplantation. We described a two-step strategy generating flow-induced enlargement of a small diameter artery in case of left graft dual arterial supply. The smaller arterial branch was ligated during a laparoscopic first-step procedure inducing a 30% enlargement of the remaining branch. The second-step donor hepatectomy was performed 1 week later using a larger artery for successful vascular anastomosis. The flow-induced enlargement of donor hepatic artery may help to reduce hepatic artery thrombosis risk after pediatric living related liver transplantation.
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Unité(s) :
Chirurgie Pédiatrique
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Intestinal transplantation including the colon in children
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GOULET O, AUBER F, FOURCADE L, SARNACKI S, JAN D, COLOMB V, CEZARD J, AIGRAIN Y, RICOUR C, REVILLON Y
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2002 - Transplant. Proc. 34(5):1885-1886 |
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Unité(s) :
Chirurgie Pédiatrique, Gastroentérologie Pédiatrique
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Intestinal transplantation in children : Paris experience
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GOULET O, LACAILLE F, COLOMB V, JAN D, CANIONI D, CEZARD J, RICOUR C, REVILLON Y
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2002 - Transplant. Proc. 34(5):1887-1888 |
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Unité(s) :
Chirurgie Pédiatrique, Gastroentérologie Pédiatrique
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Centrilobular necrosis in children after combined liver and small bowel transplantation
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LACAILLE F, CANIONI D, FOURNET JC, REVILLON Y, CEZARD JP, GOULET O
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2002 - Transplantation 73(2):252-257 |
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BACKGROUND: Centrilobular necrosis is not an uncommon finding after isolated liver transplantation. In this study, we sought to describe hepatic centrilobular necrosis in children after combined liver and small bowel transplantation (LSBT), and to assess the predictive factors, possible causes, and prognosis. METHODS: Six children aged 4 to 11 years, in whom liver biopsy showed centrilobular necrosis at least once, 3 weeks to 2 years after LSBT, were compared with nine children without this pathology. All six children experienced an acute complication in the few weeks preceding the finding of centrilobular necrosis. In addition, one child had an early arterial thrombosis and one, severe colitis 3 years after LSBT. RESULTS: Centrilobular necrosis was associated with centrilobular swelling, dropout, endotheliitis, and inflammation. Fibrosis developed early and worsened on follow-up biopsy in three children. Portal symptoms of acute rejection were not constant, and there was no ductopenia. Biologic abnormalities were responsive to increased immunosuppression, including mycophenolate in four cases. However, follow-up biopsies showed persistent lesions in five patients, mildly inflammatory in four. Baseline immunosuppression had to be maintained at high levels. No viral infections, vascular compromise (except in one), and autoimmunity were found. We compared the two groups of children for initial diagnosis, age at transplantation, time receiving parenteral nutrition, ischemic time, presence of an associated transplanted colon, number of reoperations and infections, intestinal rejection, and immunosuppression, and found no differences. CONCLUSIONS: This severe manifestation of chronic liver rejection occurred despite the heavy immunosuppression needed for LSBT. The previous acute clinical event could have triggered rejection by modifying the effective immunosuppression at the tissue level. Despite high baseline immunosuppression, histologic lesions persisted and significant fibrosis developed in half the children. We speculate that the lack of induction of tolerance in this particular setting of LSBT could be responsible for constant immune stimulation, thus chronic rejection. The optimal protocol of immunosuppression has yet to be defined to avoid this complication.
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Unité(s) :
Chirurgie Pédiatrique, Département de Pédiatrie, Gastroentérologie Pédiatrique
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Early closure of fistula after hypospadias surgery using n-butyl cyanoacrylate: Preliminary results
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LAPOINTE SP, NIHOUL-FEKETE C, LORTAT-JACOB S
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2002 - J. Urol. 168(4):1751-1753 |
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Purpose: We determine the effectiveness of the tissue adhesive n-butyl cyanoacrylate for early repair of fistula after hypospadias surgery in children.
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Unité(s) :
Chirurgie Pédiatrique
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Urological manifestations associated with chronic intestinal pseudo-obstructions in children
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LAPOINTE SP, RIVET C, GOULET O, NIHOUL-FEKETE C, LORTAT-JACOB S
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2002 - J. Urol. 168(4):1768-1770 |
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Purpose: Chronic intestinal pseudo-obstruction syndrome is a rare pathological condition characterized by chronic intestinal occlusion without any anatomical or mechanical lesion. Recent progress in the treatment of these children has led to improved survival and development of associated urological complications. We define urological manifestations of chronic intestinal pseudo-obstruction to optimize evaluation and treatment.
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Unité(s) :
Chirurgie Pédiatrique
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Amniotic fluid beta-endorphin: A prognostic marker for gastroschisis ?
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MAHIEU-CAPUTO D, MULLER F, JOUVET P, THALABARD JC, JOUANNIC JM, NIHOUL-FEKETE C, DUMEZ Y, DOMMERGUES M
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2002 - J. Pediat. Surg. 37(11):1602-1606 |
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PURPOSE: The aim of this work was to study amniotic fluid beta-endorphin as a potential predictor for postnatal morbidity in gastroschisis. METHODS: Beta-endorphin was assayed in 43 amniotic fluid samples from 13 pregnant women with fetal gastroschisis undergoing diagnostic amniocentesis or therapeutic amnioinfusion and compared with 33 controls. Within the gastroschisis group, the authors investigated the relationship between postnatal morbidity and the peak value of amniotic fluid beta-endorphin (AFBE). RESULTS: Ten AFBE values in 6 cases of gastroschisis were above the upper limit of the 95% confidence interval derived from controls. Postnatal morbidity was significantly higher when peak AFBE exceeded 10 &mgr;g/L (n = 4 pregnancies) compared with below 5 &mgr;g/L (n = 9 pregnancies), as shown by mean duration of mechanical ventilation (15.2 v 3 days; P =.01), of parenteral feeding (77 v. 18.7 days; P =.04), and of hospitalization (84 v 32.2 days; P =.04). There was no statistically significant association between postnatal morbidity markers and prenatal dilation of fetal bowel. CONCLUSIONS: The most severe cases of gastroschisis are associated with high levels of AFBE. The authors speculate that this fetal hormonal response could result from stress or pain caused by prenatal bowel damage. J Pediatr Surg 37:1602-1606. Copyright 2002, Elsevier Science (USA). All rights reserved.
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Unité(s) :
Chirurgie Pédiatrique, Endocrinologie & Médecine de la Reproduction, Maternité, Biostatistique, URC
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Aetiological diagnosis of male sex ambiguity: a collaborative study
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MOREL Y, REY R, TEINTURIER C, NICOLINO M, MICHEL-CALEMARD L, MOWSZOWICZ I, JAUBERT F, FELLOUS M, CHAUSSAIN JL, CHATELAIN P, DAVID M, NIHOUL-FEKETE C, FOREST MG, JOSSO N
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2002 - Eur. J. Pediat. 161(1):49-59 |
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A collaborative study, supported by the Biomed2 Programme of the European Community, was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex disorders, a total of 67 patients with external sexual ambiguity, testicular tissue and/or a XY karyotype. In patients with gonadal dysgenesis or true hermaphroditism, the incidence of vaginal development was 100%, a uterus was present in 60%; uni or bilateral cryptorchidism was seen in nearly all cases of testicular dysgenesis (99%) but in only 57% of true hermaphrodites. Mean serum levels of antimullerian hormone and of serum testosterone response to chorionic gonadotropin stimulation were significantly decreased in both conditions, by comparison with patients with unexplained male pseudohermaphroditism or partial androgen insensitivity (PAIS). Mutations in the androgen receptor, 90% within exons 2-8, were detected in patients with PAIS. Clinically, a vaginal pouch was present in 90%, cryptorchidism in 36%. In 52% of cases, no diagnosis could be reached, despite an exhaustive clinical and laboratory work-up, including routine sequencing of exons 2-8 of the androgen receptor. By comparison with PAIS, unexplained male pseudohermaphroditism was characterised by a lower incidence of vaginal pouch (55%) and cryptorchidism (22%) but a high incidence of prematurity/intrauterine growth retardation (30%) or mild malformations (14%). Conclusion: reaching an aetiological diagnosis in cases of male intersex is difficult because of the variability of individual cases. Hormonal tests may help to discriminate between partial androgen insensitivity and gonadal dysgenesis/true hermaphroditism but are of less use for differentiating from unexplained male pseudohermaphroditism. Sequencing of exons 2-8 of the androgen receptor after study of testosterone precursors following human chorionic gonadotrophin stimulation is recommended when gonadal dysgenesis and true hermaphroditism can be excluded. [References: 27]
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique, Endocrinologie & Médecine de la Reproduction
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Omphalocele: Beyond the size issue
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SALOMON LJ, BENACHI A, AUBER F, BONNARD A, NIHOUL-FEKETE C, DUMEZ Y
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2002 - J. Pediat. Surg. 37(10):1504-1505 |
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A small omphalocele was diagnosed and followed up prenatally. Ultrasonography examinations and clinical examination at birth were all consistent with an isolated, small omphalocele. Immediate surgical exploration at birth found an associated type I intestinal atresia. This rare association and the need for immediate postnatal management of omphalocele are discussed, and the literature is reviewed. J Pediatr Surg 37:1504-1505. Copyright 2002, Elsevier Science (USA). All rights reserved.
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Unité(s) :
Chirurgie Pédiatrique, Maternité
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Outcome of suprarenal localized masses diagnosed during the perinatal period
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SAUVAT F, SARNACKI S, BRISSE H, MEDIONI J, RUBIE H, AIGRAIN Y, GAUTHIER F, AUDRY G, HELARDOT P, LANDAIS P, MICHON J, HARTMANN O, NIHOUL-FEKETE C
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2002 - Cancer 94(9):2474-2480 |
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BACKGROUNDThe growing use of abdominal ultrasonography during pregnancy and in the postnatal period is leading to the discovery of an increasing number of suprarenal masses. The optimal diagnosis and treatment of these masses has not yet been determined.METHODSThe authors reviewed the files of patients with suprarenal masses detected prenatally or during the first 3 months of life, between 1986 and 1999, in the pediatric surgery and oncology departments of Paris hospitals.RESULTSThirty masses were detected prenatally and 23 postnatally. In the latter group of patients, the diagnosis was based on ultrasound in 8 cases and on the palpation of a mass in 15 cases, 13 of which were neuroblastoma. At birth, the masses were cystic in 19 cases, solid in 17, and mixed in 13. Sensitivities of methyliodobenzylguanidine and urinary catecholamine assay were 70% and 52% respectively. Surgery was performed in 38 cases with a median age of 42 days. Histologic analysis showed 31 neuroblastomas, 1 adrenal hemorrhage, 2 necrotic masses, 1 bronchogenic cyst, and 3 sequestrations. All the patients were alive and disease free, at a follow-up ranging from 3 months to 13 years.CONCLUSIONSIn this series, 58% of the suprarenal masses diagnosed perinatally were localized neuroblastoma with a favorable outcome. All other cases either regressed spontaneously or turned out to be benign lesion. Thus, the management of these masses must strike a compromise between aggressive treatment and a wait-and-see attitude. This requires appropriate initial assessment and a close follow-up in a specialized center. Cancer 2002;94:2474-80. Copyright 2002 American Cancer Society.DOI 10.1002/cncr.10502
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Unité(s) :
Chirurgie Pédiatrique
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Determination of the anatomical location of an antenatal intestinal occlusion by magnetic resonance imaging
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BENACHI A, SONIGO P, JOUANNIC JM, SIMON I, REVILLON Y, BRUNELLE F, DUMEZ Y
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2001 - Ultrasound Obstet. Gynecol. 18(2):163-165 |
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Intestinal occlusion occurs in approximately 1 in 3000 births. Its diagnosis can be made in utero with ultrasound however, determination of its precise location is difficult to achieve. We report herein the feasibility of diagnosing and locating a fetal small-intestine occlusion with the use of magnetic resonance imaging. [References: 5]
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Unité(s) :
Chirurgie Pédiatrique, Maternité, Radiologie Pédiatrique
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Spontaneous pneumomediastinum in children
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CHALUMEAU M, LE CLAINCHE L, SAYEG N, SANNIER N, MICHEL JL, MARIANOWSKI R, JOUVET P, SCHEINMANN P, DE BLIC J
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2001 - Pediat. Pulm. 31(1):67-75 |
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Spontaneous pneumomediastinum (SPM) is rare in children, mainly affecting male adolescents. It is usually secondary to alveolar rupture in the pulmonary interstitium, followed by dissection of gas towards the hilum and mediastinum. Many pathological and physiological events can lead to alveolar rupture, but the most common cause in children is asthma. The clinical diagnosis is based on the symptom triad of chest pain, dyspnea, and subcutaneous emphysema. and is also based on Hamman's sign. The diagnosis is confirmed by chest radiography. The main differential diagnosis is esophageal perforation, which requires an esophagogram with contrast when there is the slightest doubt in the diagnosis. Spontaneous pneumomediastinum generally resolves spontaneously within a few days, meaning that ambulatory treatment is usually appropriate. Management consists of treating the underlying cause (if identified), rest, analgesics, and simple clinical monitoring. Predisposing factors should be identified and controlled to prevent recurrence. Cases of idiopathic SPM necessitate diagnostic pulmonary function tests after the acute episode, to establish whether the child has asthma. (C) 2000 Wiley-Liss. Inc. [References: 89]
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Unité(s) :
CUDR, Pneumologie-Allergologie Pédiatrique, Radiologie Pédiatrique, Chirurgie Pédiatrique, Oto-Rhino
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Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism - association with a reduction to hamozygosity of a mutation in abcc8 or kcnj11
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FOURNET JC, MAYAUD C, DE LONLAY P, GROSS-MORAND MS, VERKARRE V, CASTANET M, DEVILLERS M, RAHIER J, BRUNELLE F, ROBERT JJ, NIHOUL-FEKETE C, SAUDUBRAY JM, JUNIEN C
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2001 - Amer. J. Pathol. 158(6):2177-2184 |
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Congenital hyperinsulinism (CHI), previously named persistent hyperinsulinemic hypoglycemia of infancy, is characterized by profound hypoglycemia because of excessive insulin secretion. CHI presents as two different morphological forms: a diffuse form with functional abnormality of islets throughout the pancreas and a focal form with focal islet cell adenomatous hyperplasia, which can be cured by partial pancreatectomy. Recently, we have shown that focal adenomatous hyperplasia involves the specific loss of the maternal 11p15 region and a constitutional mutation of a paternally inherited allele of the gene encoding the regulating subunit of the K-ATP(+) channel, the sulfonylurea receptor (ABCC8 or SUR1), In the present study on a large series of 31 patients, describing both morphological features and molecular data, we report that 61% of cases (19 out of 31) tarried a paternally inherited mutation not only in the ABCC8 gene as previously described but also in the second gene encoding the K-ATP(+) channel, the inward rectifying potassium channel (KCNJ11 or KIR6.2), in 15 cases and 4 cases, respectively. Moreover our results are consistent with the presence of a duplicated paternal 11p15 allele probably because of mitotic recombination of reduplication of the paternal chromosome after somatic loss of the maternal chromosome. In agreement with the loss of the maternal chromosome, the level of expression of a maternally expressed tumor suppressor gene, H19, was greatly reduced com pared to the level of expression of the paternally expressed growth promoter gene, IGF2, The expression of IGF2 was on average only moderately increased. Thus, focal forms of CHI can be considered to be a recessive somatic disease, associating an imbalance in the expression of imprinted genes in the 11p15.5 region to a somatic reduction to homozygosity of an ABCC8- or KCNJ11-recessive mutation, The former is responsible for the abnormal growth rate, as in embryonic tumors, whereas the latter leads to unregulated secretion of insulin. [References: 52]
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Unité(s) :
Anatomo-Pathologie, Département de Pédiatrie, U383, Chirurgie Pédiatrique, Radiologie Pédiatrique
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Long term results of liver-kidney transplantation in children with primary hyperoxaluria
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GAGNADOUX MF, LACAILLE F, NIAUDET P, REVILLON Y, JOUVET P, JAN D, GUEST G, CHARBIT M, BROYER M
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2001 - Pediat. Nephrol. 16(12):946-950 |
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From 1990 to 2000, we performed eight liver-kidney transplants in eight children, aged 1-16 years, with end-stage renal failure (ESRF) due to primary hyperoxaluria (PHI). The duration of dialysis before transplantation ranged from 2 to 42 months (mean 14 months) and was <1 year in four patients. Only the first patient underwent postoperative hemodialysis; in the other five, we chose to induce maximal diuresis from the first hours with intravenous and intragastric hyperhydration (greater than or equal to3 1/m(2) per day). High water intake with nocturnal tube hydration was maintained for 6 months to 5 years, as long as oxaluria exceeded 0.5 mmol/day. A quadruple sequential immunosuppressive regimen was used. Two patients died during liver graft surgery. The other six patients are alive and well, with a mean follow-up of 7.4 years (range 5-11 years). Patient and graft survival is 75% at 5 years. At latest follow-up, liver tests were normal in all six patients; creatinine clearance ranged from 55 to 95 ml/min per 1.73 m(2) (mean=74). Oxaluria was lower than 0.4 mmol/day in all patients (mean=0.22). The six patients underwent 15 renal biopsies, 1-11 years after transplantation. Chronic transplant nephropathy was present in four patients and mild cyclosporin nephrotoxicity in another. No oxalate crystals were seen and repeat ultrasonography has been consistently normal in all patients. The three patients with bone oxalosis showed progressive complete healing of bone lesions. All six children or adolescents now live a normal life. From this series, we conclude that early combined liver-kidney transplantation is the treatment of choice for children with ESRF due to primary hyperoxaluria. [References: 16]
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Unité(s) :
Hépatologie Adulte, Néphrologie Pédiatrique, Chirurgie Pédiatrique, Réanimation Pédiatrique
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Intestinal transplantation
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GOULET O, LACAILLE F, JAN D, RICOUR C, REVILLON Y
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2001 - Clin. Nutr. 20(Suppl 2):15-22 |
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Unité(s) :
Chirurgie Pédiatrique, Gastroentérologie Pédiatrique
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Successful intrauterine shunting of a sacrococcygeal teratoma (sct) causing fetal bladder obstruction
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JOUANNIC JM, DOMMERGUES M, AUBER F, BESSIS R, NIHOUL-FEKETE C, DUMEZ Y
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2001 - Prenatal Diag. 21(10):824-826 |
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We report a case of a sacrococcygeal teratoma (SCT) diagnosed at 22 weeks with a substantial intrapelvic cystic extension leading to bladder outlet obstruction and hydronephrosis at 27 weeks. Prenatal percutaneous shunting of the cystic teratoma was performed at 28 weeks to avoid prolonged fetal pelvic compression by the tumour that could have adverse effects by stretching the pelvic plexus and sacral nerves. Urinary dilatation resolved completely after shunting and a 3880 g baby girl was delivered at 39 weeks. The potential benefits of in utero shunting to avoid urological complications of SCTs with intrapelvic extension are discussed. Copyright (C) 2001 John Wiley & Sons, Ltd. [References: 10]
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Unité(s) :
Chirurgie Pédiatrique
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Urological complications after renal transplantation using ureteroureteral anastomosis in children
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LAPOINTE SP, CHARBIT M, JAN D, LORTAT-JACOB S, MICHEL JL, BEURTON D, GAGNADOUX MF, NIAUDET P, BROYER M, REVILLON Y
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2001 - J. Urol. 166(3):1046-1048 |
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Purpose: Ureterovesical reimplantation is most often performed for renal transplantation in children. We reviewed our experience to evaluate the safety and efficacy of ureteroureteral reimplantation in pediatric renal transplantation. Materials and Methods: We retrospectively evaluated the charts of 92 boys and 72 girls who underwent a total of 166 ureteroureteral anastomoses for renal transplantation from January 1990 to December 1999. Spatulated end-to-end anastomosis was performed between recipient and graft ureters without stenting and with a bladder catheter for at least 10 days. Results: Mean patient age at transplantation was 11.2 years (range 1 to 21.5). There were 22 living related donor and 144 cadaveric grafts. Urological anomalies and nephropathy were the cause of end stage renal disease in 146 and 20 patients, respectively. Urological complications were noted in 14 of the 166 transplantations (8.4%) in 10 boys and 4 girls, including 12 initial and 2 repeat grafts from 2 living related and 12 cadaveric donors. Five of these patients had undergone previous urological surgery. The 2 children (1.2%) with acute ureteral obstruction underwent repeat intervention after stent failure. Anastomotic leakage in 7 cases (4.2%) was treated conservatively in 1 and with a Double-J stent (Medical Engineering Corp., New York, New York) only required in 3. Reoperation was required in 3 cases. One patient (0.6%) with late ureteral stenosis underwent repeat anastomosis, 1 (0.6%) required reimplantation for recurrent pyelonephritis due to vesicoureteral reflux in the graft, 1 (0.6%) with a valve bladder required bladder augmentation and ureteral reimplantation, and 1 (0.6%) with lymphocele and 1 (0.6%) with lithiasis were successfully treated conservatively. Complications were associated with acute rejection in 6 cases. Mean followup without graft loss in patients who presented with versus without complications was 58.3 months (range 1 to 112) versus 75 (range 1 to 118). In the former patients with a mean age of 16 years 9 months versus those without urological complications mean serum creatinine was 116 and 108 mol./l., respectively. Two grafts were lost in patients with urological complications, including 1 who died of pulmonary embolism and 1 with refractory chronic rejection. Seven patients were lost to followup after 54 months (range 12 to 113) of adequate graft function. Conclusions: Ureteroureteral anastomosis is a safe and effective technique for pediatric renal transplantation with a low complication rate, which may be due to better vascularization of the shorter ureteral end of the graft. Our results should encourage the use of this technique in pediatric renal transplantation. Efforts to preserve the recipient ureters should be made at nephrectomy. [References: 33]
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Unité(s) :
Chirurgie Pédiatrique, Néphrologie Pédiatrique
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Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia
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MENNI F, DE LONLAY P, SEVIN C, TOUATI G, PEIGNE C, BARBIER V, NIHOUL-FEKETE C, SAUDUBRAY JM, ROBERT JJ
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2001 - Pediatrics 107(3):476-479 |
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Objective. To evaluate the neurologic outcomes of neonates and infants suffering from persistent hyperinsulinemic hypoglycemia of infancy (PHHI). Methods. The neurologic development of 90 PHHI patients was studied retrospectively. Sixty-three patients were treated surgically and 27 were treated medically. Fifty-four patients were neonates, of whom 8 were treated medically and 46 were operated on (19 for a focal adenomatous hyperplasia and 27 for diffuse hyperinsulinism). Thirty-six patients had infancy-onset hyperinsulinism, of whom 19 were treated medically and 17 underwent pancreatectomy (10 patients for a focal adenomatous hyperplasia and 7 for diffuse hyperinsulinism). Results. Severe psychomotor retardation was found in 7 patients, 6 with neonatal-onset PHHI. Intermediate psychomotor disability existed in 12 patients; epilepsy existed in 16. Neonatal-onset was the main risk factor for severe retardation or epilepsy. Medically treated patients were less severely affected than those treated by surgery, and there was no difference between the diffuse and focal forms of hyperinsulinism. Conclusion. Neonatal hyperinsulinemic hypoglycemia is still a severe disease with an important risk to rapidly develop severe mental retardation and epilepsy. [References: 23]
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Unité(s) :
Chirurgie Pédiatrique, Fédération de Pédiatrie, Métabolisme-Neurologie Génétique Pédiatrique
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Génétique moléculaire de la maladie de Hirschsprung : un modèle de neurocristopathie multigénique
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AMIEL J, SALOMON R, ATTIE-BITACH T, TOURAINE R, STEFFANN J, PELET A, NIHOUL-FEKETE C, VEKEMANS M, MUNNICH A, LYONNET S
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2000 - J. Soc. Biol. 194(3-4):125-128 |
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Hirschsprung's disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Three susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene, the endothelin B receptor (EDNRB) gene, and the endothelin 3 (EDN3) gene. RET gene mutations were found in significant proportions of familial (50%) and sporadic (15-20%) HSCR, while homozygosity for EDNRB or EDN3 mutations accounted for the rare HSCR-Waardenburg syndrome (WS) association. More recently, heterozygous EDNRB an EDN3 missense mutations have been reported in isolated HSCR patients. Some of these results were obtained after the identification of mouse genes whose natural or site-directed mutations resulted in megacolon and coat color spotting. There is also conclusive evidence for the involvement of other independent loci in HSCR. In particular, the recent identification of neurotrophic factors acting as RET ligands (GDNF and Neurturin) provide additional candidate genes for HSCR. The dissection of the genetic etiology of HSCR disease may then provide a unique opportunity to distinguish between a polygenic and a genetically heterogeneous disease, thereby helping to understand other complex disorders and congenital malformations hitherto considered as multifactorial in origin. Finally, the study of the molecular bases of HSCR is also a step towards the understanding of developmental genetics of the enteric nervous system giving support to the role of the tyrosine kinase and endothelin-signaling pathways in the development of neural crest-derived enteric neurons in human.
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Unité(s) :
U393, Chirurgie Pédiatrique
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Practical management of hyperinsulinism in infancy
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AYNSLEY GREEN A, HUSSAIN K, HALL J, SAUDUBRAY JM, NIHOUL-FEKETE C, DE LONLAY-DEBENEY P, BRUNELLE F, OTONKOSKI T, THORNTON P, LINDLEY KJ
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2000 - Arch. Dis. Child. 82(2 Special Issue SI):F98-F107 |
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Hyyperinsulinism in infancy is one of the most difficult problems to manage in contemporary paediatric endocrinology. Although the diagnosis can usually be achieved without difficulty, it presents the paediatrician with formidable day to day management problems. Despite recent advances in understanding the pathophysiology of hyperinsulinism, the neurological outcome remains poor, and there is often a choice of unsatisfactory treatments, with life long sequelae for the child and his or her family. This paper presents a state of the art overview on management derived from a consensus workshop held by the European network for research into hyperinsulinism (ENRHI). The consensus is presented as an educational aid for paediatricians and children's nurses. It offers a practical guide to management based on the most up to date knowledge. It presents a proposed management cascade and focuses on the clinical recognition of the disease, the immediate steps that should be taken to stabilise the infant during diagnostic investigations, and the principles of definitive treatment. [References: 55]
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Unité(s) :
Chirurgie Pédiatrique, Métabolisme-Neurologie Génétique Pédiatrique, Radiologie Pédiatrique
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Wt1 splicing alterations in wilms' tumors
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BAUDRY D, HAMELIN M, CABANIS MO, FOURNET JC, TOURNADE MF, SARNACKI S, JUNIEN C, JEANPIERRE C
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2000 - Clin. Cancer Res. 6(10):3957-3965 |
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Hereditary and sporadic forms of tumors are generally related to germ-line and somatic mutations of the same tumor suppressor gene. Unexpectedly, in Wilms' tumor, somatic mutations of the WT1 gene were found only occasionally in sporadic cases, although constitutional mutations of this gene are clearly associated with predisposition, It has been suggested that abnormal splicing may be another mode of somatic WT1 alteration. However, this idea was based on the analysis of a small series of tumors, precluding accurate evaluation of the frequency of such changes. To investigate WT1 changes at the somatic level in more detail, we analyzed the levels of the four isoform transcripts produced by alternative splicing events in a large series of 50 tumors, normal mature kidneys, and fetal kidneys. We characterized splicing alterations in 63% of sporadic Wilms' tumors. Moreover, taking into account the decreased and increased overall levels of WT1 mRNA, the percentage of sporadic tumors with changes in WT1 expression reached 90%. Whether and how these alterations of expression play a role in the tumorigenic process remain to be evaluated. [References: 52]
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Unité(s) :
U383, Chirurgie Pédiatrique, Anatomo-Pathologie
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BENYOUSSEF K, HAMEL-TEILLAC D, SARNACKI S, JAUBERT F, DE PROST Y
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2000 - Ann. Dermatol. Vénéréolog. 127(10):847-848 |
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Unité(s) :
Dermatologie, Chirurgie Pédiatrique
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Role of embolisation in the treatment of bronchopulmonary sequestration
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CURROS F, CHIGOT V, EMOND S, SAYEGH N, REVILLON Y, SCHEINMAN P, LEBOURGEOIS M, BRUNELLE F
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2000 - Pediat. Radiol. 30(11):769-773 |
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BACKGROUND: Sequestrations represent bronchopulmonary malformations that are increasingly diagnosed antenatally. After birth, the therapeutic approach in asymptomatic children is debated, as some may spontaneously regress. OBJECTIVE: To evaluate the efficacy of embolisation of the feeding systemic artery in the treatment of bronchopulmonary sequestration. MATERIALS AND METHODS: Sixteen children with bronchopulmonary sequestration were treated by endovascular embolisation of the feeding systemic artery. RESULTS: Ten patients were considered cured by embolisation alone. One patient was operated on after unsuccessful embolisation, three had partial regression of the lung mass and two are still under follow-up. CONCLUSIONS: Our experience indicates that bronchopulmonary sequestrations in children can be treated by embolisation alone.
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Unité(s) :
Radiologie Pédiatrique, Pneumologie-Allergologie Pédiatrique, Chirurgie Pédiatrique
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Impact of delayed repair and elective high-frequency oscillatory ventilation on survival of antenatally diagnosed congenital diaphragmatic hernia: first application of these strategies in the more "severe" subgroup of antenatally diagnosed newborns
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DESFRERE L, JARREAU PH, DOMMERGUES M, BRUNHES A, HUBERT P, NIHOUL-FEKETE C, MUSSAT P, MORIETTE G
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2000 - Intens. Care Med. 26(7):934-941 |
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Objective: a) To analyze the influence of a new management strategy on the outcome of neonates with antenatally diagnosed congenital diaphragmatic hernia (CDH); b) to determine early prognosis respiratory factors with the new strategy. Design: Retrospective study. Setting: Level III perinatal center. Patients and method: Between 1985 and 1997, 51 consecutive neonates with antenatally diagnosed CDH were admitted to our level III neonatal intensive care unit. Before 1992 (period 1; n = 19), we used conventional mechanical ventilation and early surgery requiring transfer. Since 1992 (period 2; n = 32), we prospectively tested a new approach including (a) systematically use of high-frequency oscillatory ventilation (HFOV) regardless of the initial clinical severity, (b) delayed surgery following stabilization requiring transfer to a different surgical unit, but (c) no transfer of unstable patients with surgery under HFOV in our neonatal intensive care unit (n = 10). The two cohorts were comparable in terms of potential ante and postnatal prognostic indicators. Results: Survival was improved with the new strategy: 21/32 (66 %) vs. 5/19 (26 %); P < 0.02. This improvement between periods 1 and 2 was due to a decrease in both preoperative and postoperative deaths in the later period. The better survival during period 2 was associated with the appearance of very late deaths, frequent pleural effusions, and the survival of more severe forms having evolved to a chronic respiratory insufficiency. Survivors were ventilated for longer time with longer duration of oxygen supplementation. The best oxygenation index (OI), alveolar arterial difference and oscillation amplitude (PIP) during the first 24 h, but not the best PaCO2, were the most reliable prognostic indicators during period 2. An OI less than or equal to 10 with a P/P less than or equal to 55 cmH(2)O was associated with a very good prognosis (94 % survival). Conclusions: The prognosis of antenatally diagnosed CDH was improved by systematic HFOV on admission, no systematic transfer, and delayed surgery. This improvement is associated with modification of postnatal outcome. [References: 33]
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Unité(s) :
Réanimation Pédiatrique, Chirurgie Pédiatrique
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Congenital microgastria with pierre robin sequence sequence and partial trismus
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GIURGEA I, RAQBI F, NIHOUL-FEKETE C, COULY G, ABADIE V
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2000 - Clin. Dysmorphol. 9(4):307-308 |
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A female with congenital microgastria, Pierre Robin sequence and partial trismus is described. This is a previously undescribed association and the etiology of the association is discussed. Clin Dysmorphol 9: 307-308 (C) 2000 Lippincott Williams & Wilkins. [References: 6]
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Unité(s) :
Chirurgie Pédiatrique, Département de Pédiatrie, Stomatologie & Chirurgie Maxillo-Faciale
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Long-term outcome in children with opsoclonus-myoclonus associated with localized neuroblastoma: a report from the french society of pediatric oncology
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PLANTAZ D, MICHON J, VALTEAU COUANET D, COZE C, CHASTAGNER P, BERGERON C, NELKEN B, MARTELLI H, PEYROULET MC, CARPENTIER AF, ARMARI ALLA C, PAGNIER A, RUBIE H
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2000 - Archives Pédiatrie 7(6):621-628 |
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Long-term outcome in children with opsoclonus-myoclonus associated with localized neuroblastoma: a report from the French Society of Pediatric Oncology. Opsoclonus-myoclonus is a rare syndrome characterized by multidirectional chaotic eye movements, myoclonus and ataxia. In children, if could be a paraneoplastic syndrome in association with neuroblastoma, usually with a high survival rate, but having a high frequency of neurologic and psychologic sequelae. Objectives. - The aim of this study was to describe oncologic outcome (prospectively) and neurologic outcome (retrospectively) in children with non-metastatic neuroblastoma, and to determine its best treatment. Patients and methods. - Data were collected on 21 children diagnosed with localized neuroblastoma and opsoclonus-myoclonus between 1990-1999 from the French Society of Pediatric Oncology institutions Results. - Median age at diagnosis was 18 months. Location of the tumor was abdominal in 14 cases, thoracic in three cases, pelvic in three cases, and cervical in the last case. There was a majority of small tumors with a maximal diameter < 5 cm in 13 cases. Only four tumors were initially considered as unresectable tumors and received first-line chemotherapy. Complete macroscopic resection was performed in 20 cases (four after primary chemotherapy). Nine children received chemotherapy. Twenty children remained in first complete remission, and one relapsed and died (the unique NMYC amplified case). Treatment for opsoclonus-myoclonus varied widely. Only one child received no medical treatment for opsoclonus-myoclonus, because of complete resolution of neurologic symptoms after exclusive surgery. The following agents were used: corticosteroids in 18 cases, intravenously immune globulin in five cases, and antiepileptic drugs in seven cases. Ten patients experienced relapses of opsoclonus-myoclonus symptoms, mainly related to the decrease of steroid therapy (5/10). Ten of 16 assessable children had persistent neurologic deficits including speech delay or cognitive deficits (8/16), ataxia (6/16), motor delay (2/16), and behavioral problems (2/16). There is no correlation between neurologic outcome, and either age at diagnosis or duration of neurologic symptoms, or type of treatment of the tumor, particularly chemotherapy. Conclusion. - Persistent neurologic deficits are characteristic for children with neuroblastoma and opsoclonus-myoclonus. Neurologic outcome seems unrelated to the treatment of neuroblastoma, which should exclusively be conducted according to oncological criteria. The treatment of opsoclonus-myoclonus should be standardized mainly based on high-dose hydrocortisone, with a very low decreasing dosage, associated to intravenously immune globulin in severe cases. A biological immunologic work-up of the disease and cautious neurologic and psychologic standardized follow-up should be performed. (C) 2000 Editions scientifiques ef medicales Elsevier SAS. [References: 33]
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Unité(s) :
Chirurgie Pédiatrique
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Sry protein is expressed in ovotestis and streak gonads from human sex-reversal
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SALAS-CORTES L, JAUBERT F, NIHOUL-FEKETE C, BRAUNER R, ROSEMBLATT M, FELLOUS M
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2000 - Cytogenet. Cell Genet. 91(1-4):212-216 |
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In mammals, a master gene located on the Y chromosome, the testis-determining gene SRY, controls sex determination. SRY protein is expressed in the genital ridge before testis determination, and in the testis it is expressed in Sertoli and germ cells. Completely sex-reversed patients are classified as either 46,XX males or 46,XY females. SRY mutations have been described in only 15% of patients with 46,XY complete or partial gonadal dysgenesis. However, although incomplete or partial sex-reversal affects 46,XX true hermaphrodites, 46,XY gonadal dysgenesis, and 46,XX/46,XY mosaicism, only 15% of the 46,XX true hermaphrodites analyzed have the SRY gene. Here, we demonstrate that the SRY protein is expressed in the tubules of streak gonads and rete testis, indicating that the SRY protein is normally expressed early during testis determination. Based on these results, we propose that some factors downstream from SRY may be mutated in these 46,XY sex-reversal patients. We have also analyzed SRY protein expression in the ovotestis from 46,XX true hermaphrodites and 46,XX/46,XY mosaicism, demonstrating SRY protein expression in both testicular and ovarian portions in these patients. This suggests that the SRY protein does not inhibit ovary development. These results confirm that other factors are needed for complete testis development, in particular, these downstream of the SRY protein. Copyright (C) 2001 S. Karger AG, Basel. [References: 28]
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Unité(s) :
Anatomo-Pathologie, Chirurgie Pédiatrique
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Blockade of the integrin alpha l beta 2 but not of integrins alpha 4 and/or beta 7 significantly prolongs intestinal allograft survival in mice
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SARNACKI S, AUBER F, CRETOLLE C, CAMBY C, CAVAZZANA-CALVO M, MULLER W, WAGNER N, BROUSSE N, REVILLON Y, FISCHER A, CERF-BENSUSSAN N
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Background-Small bowel transplantation remains a difficult therapeutic option endangered by a high rate of rejection and infectious complications. To improve these clinical results, it is mandatory to set up animal models to test alternative immunosuppressive regimens which may lead to immunotolerance. Aims-To determine the value of blockade of alpha L beta 2 (LFA-1) and alpha 3 and beta 7 integrins (alpha 4 beta 1, alpha 4 beta 7, and alpha E beta 7) in the prevention of rejection of fetal small bowel grafts in mice and the effect of the association of calcineurin dependent drugs in anti-LFA-1 treated mice. Methods-Adult recipient mice engrafted with allogeneic fetal small bowel received a short course of anti-alpha 4 and/or anti-LFA-1 monoclonal antibodies (mAb) with or without FK506 or cyclosporin A. In addition, in a set of experiment, beta 7(-/-) mice were used as recipients. Graft biopsies were performed and processed for standard histology. Results-Blockade of the pathways of the integrins alpha 4 and beta 7 had a modest or no effect on intestinal graft survival. In contrast, transitory, short administration of anti-LFA-1 monoclonal antibody alone, when started before engraftment (day-1), allowed long term survival of intestinal grafts, even when associated with calcineurin dependent drugs. However, early withdrawal of FK506 reversed the immunosuppressive effect of anti-LFA-1 treatment. Conclusions-These results suggest that firstly, anti-LFA-1, but not anti-alpha 4 mAb treatment, may be useful in improving the results of intestinal transplantation, and secondly, that this treatment is not incompatible with long term administration of tacrolimus currently used in the prevention of small bowel graft rejection in humans. [References: 38]
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Unité(s) :
U429, Chirurgie Pédiatrique, Anatomo-Pathologie, EPI 9925
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Value of open lung biopsy in immunocompromised children
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STEFANUTTI D, MORAIS L, FOURNET JC, JAN D, CASANOVA JL, SCHEINMANN P, DE BLIC J
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2000 - J. Pediat. 137(2):165-171 |
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Objectives: To determine the value of open lung biopsy (OLB) in terms of diagnosis, morbidity, mortality, and benefits in immunocompromised children with pulmonary involvement. Study design: We retrospectively reviewed 36 OLBs performed in 32 immunocompromised children between 1985 and 1998. Seventeen biopsies were performed in patients with primary immunodeficiency syndromes and 19 in patients with secondary immunodeficiency syndromes. Twenty-eight biopsies were performed because of a lack of response to ongoing antimicrobial treatments with negative or positive findings on bronchoalveolar lavage (BAL) and a deteriorating clinical or radiologic course, and 8 biopsies were performed because of persistent chest x-ray infiltrates. Results: Diffuse pulmonary infiltrates were observed on chest x-ray in 28 cases, hyperinflation in 3 cases, and nodular infiltrates in 5 cases. A histopathologic diagnosis was possible for all 36 OLBs. Specific diagnosis was obtained in 22 (61%) (12 infectious agents, 6 tumors, 4 bronchiolitis obliterans) and non-specific diagnosis in 14 (399/0). Fungi were the main infectious agents (8 of 12). For the diagnosed infections, BAL provided 4 true-positive, 3 false-positive, and 6 false-negative results. Specific treatment was changed in 77% of cases, providing real benefits in 12 (33%) cases. The morbidity and overall mortality rates were 31% and 33%, respectively. The mortality rate was significantly higher in the first 30 days after OLB in patients receiving ventilatory assistance (58%). Conclusions: OLB in immunocompromised children with deteriorating clinical or radiologic course is a sensitive diagnostic tool. [References: 37]
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Unité(s) :
Pneumologie-Allergologie Pédiatrique, Anatomo-Pathologie, Chirurgie Pédiatrique, Immuno-Hématologie
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Characteristics and results of epicardial pacing in neonates and infants
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VILLAIN E, MARTELLI H, BONNET D, ISERIN L, BUTERA G, KACHANER J
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2000 - Pace-Pac. Clin. Electrophysiol. 23(12):2052-2056 |
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The results of epicardial pacing in infants with isolated congenital complete atrioventricular block (CAVB) are reported. Thirty-four patients, aged I day to 20 months (22 patients < 1 month), were paced between 1988 and 1998. Thirty had bradycardia < 50 beats/min with symptoms in 12 patients, and 4 patients were paced because of associated ventricular ectopy or prolonged QT interval. In thirty cases, the electrodes were implanted through a left thoracotomy and connected to an abdominal generator; in four, the subxyphoid approach was preferred. Twenty-two children had dual chamber units. There was no operative death, but three patients died later of cardiomyopathy. Seven infants were reoperated for electrode displacement, infection, exit block, and pacemaker sensitivity. Chronic ventricular thresholds ranged from 0.3 to 2 V except in one case (4 V) and proper atrial sensing was lost in two cases. All children are doing well and the generator has lasted at least 5 years in 16 cases. In conclusion, epicardial pacing in infants with CAVE can be done with satisfactory results. There was no mortality in relation with pacing and thresholds have improved with the use of steroid-eluting electrodes. The deep location of the generator prevents cutaneous erosion and allows implantation of large units with a longer life duration. [References: 24]
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Unité(s) :
Chirurgie Pédiatrique, Cardiologie Pédiatrique
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Allogeneic fetal small bowel graft in pigs treated with cyclosporin A
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ZINZINDOHOUE F, SARNACKI S, CANIONI D, BROUSSE N, REVILLON Y
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2000 - J. Pediat. Surg. 35(12):1728-1732 |
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Background: The functional integrity of transplanted fetal intestine was proven in rodents. The authors examined the morphology and development of intraperitonealy transplanted fetal intestine under cyclosporin A (CsA) monotherapy in a large mammal. Methods: Allogeneic fetal intestinal grafts we re transplanted intraperitonealy in pigs. The graft was wrapped in omentum. Thirteen recipients received grafts harvested at 60 days of gestation and 5 at 105 days of gestation. All recipients received 25 mg/kg/d CsA. CsA blood levels were measured at the end of the study. The development of the grafts was assessed by inspection and histology studying revascularization, maturation, and immune rejection. Results: All grafts developed neovascularization. The intestinal wall in the 105-day-old group was thick enough to lead to complete mucosal destruction, whereas the 60-day-old group showed viable mucosa. All grafts induced an immune rejection. This immune response was correlated with the CsA blood level. The graft was destroyed within 15 days when CsA trough level was below 70 ng/mL, had a subacute rejection with villi atrophy when CsA trough level ranged from 70 to 150 ng/mL, and had a good appearance in spite of mild blunting of villi when CsA trough level was over 150 ng/mL. Conclusion: Allogeneic fetal intestinal transplantation from 60-day-old embryos in pig achieved successful graft. J Pediatr Surg 35:1728-1732. Copyright (C) 2000 by W.B. Saunders Company. [References: 18]
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Unité(s) :
Chirurgie Pédiatrique, Anatomo-Pathologie
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Study of graft-infiltrating cells in the rat small rowel allograft using low-dose FK 506
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AZUMA T, NAKAI H, OKADA A, REVILLON Y
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1999 - Transplant. Proc. 31(7):2790-2791 |
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Unité(s) :
Chirurgie Pédiatrique
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Failure of third ventriculostomy in the treatment of aqueductal stenosis in children
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CINALLI G, SAINTE-ROSE C, CHUMAS P, ZERAH M, BRUNELLE F, LOT G, PIERRE-KAHN A, RENIER D
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1999 - Neurosurg. Focus 6(4):e3 |
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Object. The goal of this study was to analyze the types of failure and long-term efficacy of third ventriculostomy in children. Methods. The authors retrospectively analyzed clinical data obtained in 213 children affected by obstructive triventricular hydrocephalus who were treated by third ventriculostomy between 1973 and 1997. There were 120 boys and 93 girls. The causes of the hydrocephalus included: aqueductal stenosis in 126 cases; toxoplasmosis in 23 cases, pineal, mesencephalic, or tectal tumor in 42 cases; and other causes in 22 cases. In 94 cases, the procedure was performed using ventriculographic guidance (Group I) and in 119 cases by using endoscopic guidance (Group II). In 19 cases (12 in Group I and seven in Group II) failure was related to the surgical technique. Three deaths related to the technique were observed in Group I. For the remaining patients, Kaplan-Meier survival analysis showed a functioning third ventriculostomy rate of 72% at 6 years with a mean follow-up period of 45.5 months (range 4 days-17 years). No significant differences were found during long-term follow up between the two groups. In Group I, a significantly higher failure rate was seen in children younger than 6 months of age, but this difference was not observed in Group II. Thirty-eight patients required reoperation (21 in Group I and 17 in Group II) because of persistent or recurrent intracranial hypertension. In 29 patients shunt placement was necessary. In nine patients in whom there was radiologically confirmed obstruction of the stoma, the third ventriculostomy was repeated; this was successful in seven cases. Cine phase-contrast (PC) magnetic resonance (MR) imaging studies were performed in 15 patients in Group I at least 10 years after they had undergone third ventriculostomy (range 10-17 years, median 14.3 years); this confirmed long-term patency of the stoma in all cases. Conclusions. Third ventriculostomy effectively controls obstructive triventricular hydrocephalus in more than 70% of children and should be preferred to placement of extracranial cerebrospinal shunts in this group of patients. When performed using ventriculographic guidance, the technique has a higher mortality rate and a higher failure rate in children younger than 6 months of age and is, therefore, no longer preferred. When third ventriculostomy is performed using endoscopic guidance, the same long-term results are achieved in children younger than 6 months of age as in older children and, thus, patient age should no longer be considered as a contraindication to using the technique. Delayed failures are usually secondary to obstruction of the stoma and often can be managed by repeating the procedure. Midline sagittal T2-weighted MR imaging sequences combined with cine PC MR imaging flow measurements provide a reliable tool for diagnosis of aqueductal stenosis and for ascertaining the patency of the stoma during follow-up evaluation.
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Unité(s) :
Chirurgie Pédiatrique, Neurochirurgie Pédiatrique, Radiologie Pédiatrique
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Role of calcineurin-dependent drugs on the immunosuppressive effect induced by the anti-lfa-1 antibody in a fetal intestinal transplantation model in mice
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CRETOLLE-VASTEL C, CAMBY C, CERF-BENSUSSAN N, CAVAZZANA-CALVO M, FISCHER A, REVILLON Y, SARNACKI S
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1999 - Chirurgie 124(5):503-510 |
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STUDY AIM: We have previously demonstrated that anti-LFA-1 monoclonal antibody (mAb) can efficiently protect against rejection of small bowel allograft in a mouse model. The aim of the present work was to determine, in the same model, the optimum conditions for utilisation of anti-LFA-1 mAb and the effects of calcineurin-dependent drugs on the immunosuppression induced by anti-LFA-1 mAb treatment. MATERIALS AND METHODS: Foetal small intestines of C57Bl/6 (H-2b) mice were transplanted into adult C3H/He (H-2k) mice. Recipients were treated with anti-LFA-1 mAb alone (with or without day-1 injection), or combined to cyclosporin (20 mg.kg-1.j-1 for 14 days), or to tacrolimus (1 mg.kg-1.j-1 from day 0 to day 7). Biopsies were performed after engraftment from day 5 to day 30. RESULTS: Administration of anti-LFA-1 mAb alone is sufficient to induce significant prolongation of intestinal allograft survival, provided that the treatment starts one day before engraftment. This tolerogenic effect is reversed by the transitory administration of tacrolimus (p = 0.008). CONCLUSION: Treatment with anti-LFA-1 mAb has to be started before the allogeneic response has begun. Calcineurin-dependent drugs can modulate the tolerogenic effect induced by anti-LFA-1. A transgenic mice model should give precise details about underlying mechanisms of these interactions, before a possible utilisation of anti-LFA-1 mAb in intestinal transplantation in humans.
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Unité(s) :
Chirurgie Pédiatrique, EPI 9925, U429
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JARREAU PH, DESFRERE L, DOMMERGUES M, NIHOUL-FEKETE C, HUBERT P, MORIETTE G
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1999 - Archives Pédiatrie 6(Suppl 2):235S-237S |
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Unité(s) :
Réanimation Pédiatrique, Chirurgie Pédiatrique
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Liver transplantation with a living related donor in children
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LACAILLE F, BELGHITI J, SAUVAT F, MICHEL JL, FARGES O, RENGEVAL A, SARNACKI S, SAYEGH N, JAN D, REVILLON Y
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1999 - Gastroentérol. Clin. Biol. 23(6-7):710-716 |
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Objectifs - Liver transplantation with living related donor has been recently developed to compensate for the insufficient number of liver grafts for children. The major problem is ethical because it implies voluntary mutilation of a healthy person This paper report results in 37 living related donors.
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Unité(s) :
Département de Pédiatrie, Radiologie Pédiatrique, Anesthésie Pédiatrique, Chirurgie Pédiatrique
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Conservative treatment for girls with nonmetastatic rhabdomyosarcoma of the genital tract: A report from the study committee of the International Society of Pediatric Oncology
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MARTELLI H, OBERLIN O, REY A, GODZINSKI J, SPICER RD, BOUVET N, HAIE-MEDER C, TERRIER-LACOMBE MJ, DE TOLEDO JS, SPOONER D, SOMMELET D, FLAMANT F, STEVENS MCG
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1999 - J. Clin. Oncol. 17(7):2117-2122 |
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Purpose: To report the results of a conservative multimodal approach in girls with nonmetastatic rhabdomyosarcoma (RMS) of the genital tract, treated in International Society of pediatric Oncology (SIOP) Malignant Mesenchymal Tumors 84 and 89 protocols.
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Unité(s) :
Chirurgie Pédiatrique
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Living-related liver transplantation in children: The 'Parisian' strategy to safely increase organ availability
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REVILLON Y, MICHEL JL, LACAILLE F, SAUVAT F, FARGES O, BELGHITI J, RENGEVAL A, JOUVET P, SAYEGH N, SARNACKI S, JAN D
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1999 - J. Pediat. Surg. 34(5):851-853 |
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Purpose: The aim of the authors was to report their experience with living related liver transplantation (LRLT) in children, particularly focusing on the safety of the two-center "Parisian" strategy.
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Unité(s) :
Chirurgie Pédiatrique
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Evaluation of gonadal function in 107 intersex patients by means of serum antimullerian hormone measurement
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REY RA, BELVILLE C, NIHOUL-FEKETE C, MICHEL-CALEMARD L, FOREST MG, LAHLOU N, JAUBERT F, MOWSZOWICZ I, DAVID M, SAKA N, BOUVATTIER C, BERTRAND AM, LECOINTRE C, SOSKIN S, CABROL S, CROSNIER H, LEGER J, LORTAT-JACOB S, NICOLINO M, RABL W, TOLEDO SPA, BAS F, GOMPEL A, CZERNICHOW P, CHATELAIN P, ET AL
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1999 - J. Clin. Endocrinol. Metabol. 84(2):627-631 |
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Fetal male sexual differentiation is driven by two testicular hormones: testosterone (synthesized by interstitial Leydig cells) and antimullerian hormone (AMH; produced by Sertoli cells present in the seminiferous tubules). Intersex states result either from gonadal dysgenesis, in which both Leydig and Sertoli cell populations are affected, or from impaired secretion or action of either testosterone or AMH. Until now, only Leydig cell function has been assessed in children with ambiguous genitalia, by means of testosterone assay.
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Unité(s) :
Chirurgie Pédiatrique, Anatomo-Pathologie, Biochimie Médicale, Endocrinologie et Croissance, Endocri
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Acute scrotal pain in children: results of 543 surgical explorations
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VAN GLABEKE E, KHAIROUNI A, LARROQUET M, AUDRY G, GRUNER M
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1999 - Pediat. Surg. Int. 15(5-6):353-357 |
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A total of 543 boys suffering from acute scrotal pain underwent emergency surgery between 1986 and 1996. Of these, 91 had a testicular torsion (TT) (16.8%) and 250 had an appendage torsion (AT) (46%). The cause varied with patient age, with most TTs in newborns and boys of 15 years and most ATs in 10-11-year-olds; 21.5% were operated upon within 6 h of the onset of pain and 69.2% within 24 h. Most stayed in hospital for less than 24 h. Pre-surgical examination identified no criterion for excluding TT. We therefore believe that all children complaining of acute scrotal pain should undergo surgery. As release of an inflamed AT reduces pain, three-fourths of the children benefited directly from surgery. [References: 38]
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Unité(s) :
Chirurgie Pédiatrique
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