Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus.

BACKGROUND: To open vaginal cavity to the pelvic floor is part of surgical treatment for urogenital sinus (UGS) in girls with congenital adrenal hyperplasia (CAH). For high UGS, this operative procedure can be challenging and may jeopardise urinary continence. Combined perineal and laparoscopic approaches could be useful to minimise perineal dissection and to facilitate the vaginal lowering. PATIENTS AND METHODS: We report the procedure of a laparoscopic-assisted vaginal pull-through for supra-sphincteric UGS in a 5-year-old girl with CAH. Laparoscopic dissection of the vagina from the posterior wall of the bladder and urethra, division of the confluence and vaginal pull-through to the perineum are described. DISCUSSION: The technique is derived from laparoscopic-assisted treatment for high ano-rectal malformations. Compared with current procedures for treatment for high UGS, laparoscopic-assisted approach allows mobilising vagina with minimal dissection of perineum and complete preservation of urethra. Another major advantage is to provide a direct vision for dissection of the space between rectum and urethra prior to vaginal pull-through. CONCLUSION: Laparoscopic-assisted vaginal pull-through appears to be an interesting approach for high UGS in CAH patients, reducing dissection and risk of urinary incontinence. This new approach needs to be strengthened by other cases.

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.

UNLABELLED: We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child. She presented with end-stage renal disease at the age of 1 month, followed by a rapidly progressing hepatic fibrosis and dilatation of the intrahepatic bile ducts, leading to secondary biliary cirrhosis and portal hypertension. Combined liver-kidney transplantation was performed at the age of 4 years, with excellent outcome. DNA analysis showed a NPHP3 (coding nephrocystin-3) homozygote mutation, confirming that this malformation complex is a ciliopathy. CONCLUSION: This rare association required an exceptional therapeutic approach: combined simultaneous orthotopic liver and kidney transplantation in a situs inversus recipient. The long-term follow-up was excellent with a very good evolution of the renal and hepatic grafts and normalization of growth and weight. This malformation complex has an autosomal recessive inheritance with a 25% recurrence risk in each pregnancy.

Cure of multifocal panhepatic hepatoblastoma: is liver transplantation always necessary?

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.

Infected urocolpos and generalized peritonitis secondary to labia minora adhesions.

INTRODUCTION: Labia minora adhesions (LMA) are a common finding in young girls. Usually, this condition is asymptomatic and spontaneously disappears during adolescence. We report on a case revealed by infected urocolpos and peritonitis and whose treatment finally required surgical reduction labioplasty. CASE REPORT: A 9-year-old girl presented with a 2-day history of abdominal pain and fever. Urinary continence had never been obtained, with diurnal leaks. Physical examination showed signs of peritoneal irritation and a subtotal vulvar obstruction due to LMA. At surgery, after LMA lysis, a large amount of cloudy urine-like fluid emptied under pressure from the vagina. Laparoscopy showed generalized peritonitis without any intraabdominal cause. The same Escherichia coli was identified in the infected urocolpos and the abdominal fluid. Postoperative course was uneventful. Because of recurrent LMA, the patient underwent several courses of local estrogen therapy. Labia minora hypertrophy with LMA developed 2 years after peritonitis, requiring surgical reduction labioplasty. We used a new technique with interposition of skin flaps. The girl is now well, without LMA or infection, 4 years after labioplasty. CONCLUSION: Although rare, subtotal vulvar obstruction because of LMA may lead to infected hydrocolpos and peritonitis. Recurrent LMA may necessitate surgical labioplasty.

Biliary atresia: Swiss national study, 1994-2004.

OBJECTIVES: To determine the epidemiology of biliary atresia (BA) in Switzerland, the outcome of the children from diagnosis, and the prognostic factors. PATIENTS AND METHODS: The records of all patients with BA born in Switzerland between January 1994 and December 2004 were analyzed. Survival rates were calculated with the Kaplan-Meier method, and prognostic factors evaluated with the log rank test. Median follow up was 58 months (range, 5-124). RESULTS: BA was diagnosed in 48 children. Incidence was 1 in 17,800 live births (95% confidence interval 1/13,900-1/24,800), without significant regional, annual, or seasonal variation. Forty-three children underwent a Kasai portoenterostomy (PE) in 5 different Swiss pediatric surgery units. Median age at Kasai PE was 68 days (range, 30-126). Four-year survival with native liver after Kasai PE was 37.4%. Liver transplantation (LT) was needed in 31 in 48 children with BA, including 5 patients without previous Kasai PE. Four patients (8%, all born before 2001) died while waiting for LT, and 29 LT were performed in 27 patients (28 in Geneva and 1 in Paris). All of the transplanted patients are alive. Four-year overall BA patient survival was 91.7%. Four-year survival with native liver was 75% in patients who underwent Kasai PE before 46 days, 33% in patients operated on between 46 and 75 days, and 11% in patients operated on after 75 days (P = 0.02). CONCLUSIONS: Overall survival of patients with BA in Switzerland compares favorably with current international standards, whereas results of the Kasai operation could be improved to reduce the need for LTs in infancy and early childhood.

Ex vivo lentivirus transduction and immediate transplantation of uncultured hepatocytes for treating hyperbilirubinemic Gunn rat.

BACKGROUND: Ex vivo liver gene therapy provides an attractive alternative to orthotopic liver transplantation for the treatment of liver diseases. We previously reported a protocol in which human primary hepatocytes are highly transduced in Suspension with Lentiviral vectors and Immediately Transplanted (SLIT). Here, we evaluated the SLIT approach in Gunn rats, the animal model for Crigler-Najjar syndrome type 1, a defect in bilirubin UDP-glucuronosyltransferase (BUGT). METHODS: We constructed lentiviral vectors coding for BUGT under control of an ubiquitous promoter. Control vectors contained Green Fluorescent Protein (GFP) under control of the same promoter. Hepatocytes were isolated from jaundiced Gunn rats and transduced in suspension for four hr. After washing, 2x10 hepatocytes were immediately transplanted into syngeneic rats. Bilirubinemia and bile pigments were regularly assessed after cell transplantation. The percentage and presence of transduced hepatocytes was analyzed by immunohistochemistry in GFP-transplanted animals. RESULTS: In rats receiving BUGT-transduced hepatocytes, bilirubinemia decreased by about 30%. The level of correction remained stable for up to 240 days. Bilirubin glucuronides were present in the bile of treated animals, indicating the metabolic activity of engrafted hepatocytes. In contrast, bilirubinemia in GFP-transplanted rats did not decline but rather increased. GFP-positive hepatocytes amounted to 0.5-1% of the liver, which is in agreement with the number of transplanted and genetically-modified hepatocytes (6x10). CONCLUSIONS: This work reports the first demonstration of long-term metabolic benefit after rapid transplantation of ex vivo lentivirally tranduced hepatocytes. Therefore, this study demonstrates the therapeutic proof-of-principle and potential of the SLIT approach for treating inherited metabolic liver diseases.

Total laparoscopic excision of retroperitoneal cystic lymphangioma.

Retroperitoneal cystic lymphangioma is a rare benign tumor of the retroperitoneal lymphatics that usually manifests in infancy. If surgical excision is used in treatment, it needs to be as complete as possible to reduce the risk of recurrence. Two pediatric patients, an 18-month-old girl and a 4-yearold boy, underwent laparoscopic excision of symptomatic retroperitoneal cystic lymphangiomas. Macroscopically, the resection was complete in both cases. The postoperative course in both cases was uneventful. Both children remained asymptomatic and no recurrence was observed at 18-month follow-up. Complete laparoscopic excision should be considered as a therapeutic option to treat retroperitoneal cystic lymphangioma.

Ingestion of magnets: innocent in solitude, harmful in groups.

Foreign body ingestion is frequent in children and generally associated with little morbidity. However, some foreign bodies are innocent when ingested as a single object, but may have harmful effect if numerous. We report a 9-year-old girl who swallowed 5 magnets, causing acute intestinal obstruction. At laparotomy, 2 magnets were found in the cecum and 3 in the transverse colon, attracting each other and clasping a segment of ileum in between, causing a complete obstruction of the small intestine. If numerous magnets are ingested, particular concern is advised, and if signs of intestinal distress develop, prompt laparotomy to prevent serious gastrointestinal complications should be performed.

Peritoneal schistosomiasis: an unusual laparoscopic finding.

Laparoscopic surgery is now a common procedure for the cure of appendicitis. Unexpected other laparoscopic findings can be a diagnostic challenge. The authors present a case in which, in addition to typical appendicitis, multiple whitish nodules were found diffusely on the peritoneal surfaces suggesting a differential diagnosis including miliary tuberculosis and carcinoma metastases. The final diagnosis of schistosomiasis, made by histology and serology, had not been suspected. This uncommon and rare presentation deserves to be reported, especially to physicians of nonendemic areas, in an era in which people travel extensively.

Orthotopic liver transplants in children: change in hepatic venous Doppler wave pattern as an indicator of acute rejection.

PURPOSE: To determine whether a change in hepatic venous flow pattern can be seen during hepatic graft rejection and if it is reversible with treatment. MATERIALS AND METHODS: Thirty-nine children received 42 liver allografts during a 10-year span. Doppler ultrasonographic (US) recordings of hepatic venous wave patterns were reviewed. Nine children (ten grafts) with continuously monophasic flow were not included in the study. Changes from triphasic to monophasic flow were recorded and correlated with clinical findings in all 30 patients and biopsy findings in 25. Biopsy results were compared with US data recorded within 24 hours of biopsy. Standard statistical tests were conducted to assess value of Doppler US in diagnosis of graft rejection. Significance was assessed with chi(2) statistics. RESULTS: Of 113 Doppler US recordings in 30 children, 74 showed an episode of change in flow from triphasic to monophasic in 27 patients; biopsy correlation existed for 39 episodes. Thirty-five episodes were due to acute graft rejection (true-positive results). Thirty-nine episodes were due to a variety of pathologic causes (determined with biopsy results for 12 and by clinical means for 27) (false-positive results). Thirty-six assessments were true-negative (US and biopsy results negative for rejection); three were false-negative. When US results were evaluated against clinical and biopsy data, analysis revealed that change to monophasic flow predicted rejection with sensitivity of 92% (35 of 38) and specificity of 48% (36 of 75). Negative predictive value of evidence of persistent triphasic flow was 92% (36 of 39). In the subgroup of US findings with biopsy correlation, specificity increased from 48% (36 of 75) to 75% (36 of 48). It was zero (0 of 27) for the group with clinical correlation only. CONCLUSION: Change of hepatic venous flow pattern from triphasic to monophasic is sensitive but nonspecific for detection of graft rejection. Evidence of persistent triphasic flow helps eliminate the possibility of graft rejection with a high negative predictive value.

Uterocervicoplasty with a bladder mucosa layer for the treatment of complete cervical agenesis.

OBJECTIVE: To create an endocervical canal in a patient with a complete cervical agenesis. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 12-year-old girl presented with lower abdominal pain. On examination, complete vaginal agenesis was noted, with a 2-cm vaginal dimple. A pelvic magnetic resonance imaging scan disclosed an hematometra and absence of the cervix and vagina. INTERVENTION(S): Initial surgical therapy consisted of a vaginoplasty with a sigmoid bowel segment and opening of the uterus by puncture and stenting. The cervical permeation failed, with immediate complete stenosis. A new attempt was made through a low sagittal hysterotomy by removing a central muscular cylinder and lining the channel with a free tubularized bladder mucosa graft. A stent was left in place. MAIN OUTCOME MEASURE(S): Hysteroscopy, hysterography, and clinical follow-up evaluation. RESULT(S): The cervical stent was removed after 5 months. A hysterography and hysteroscopy confirmed the permeability of the cervix, which was lined by a well-vascularized longitudinally folded mucosa. Regular menses had been noted for more than 3 years as of this report. CONCLUSION(S): Cervicoplasty with mucosal lining permits the creation of a patent cervical canal, even in the reputedly unfavorable forms of congenital cervical agenesis.

Hepatic vein Doppler studies: variability of flow pattern in normal children.

BACKGROUND: Loss of triphasicity of hepatic venous flow on Doppler US has been correlated with hepatic parenchymal disease such as cirrhosis and graft rejection in adults. OBJECTIVE: To document physiological variations of hepatic vein (HV) flow patterns in normal children of different age groups, the influence of age, sex, body position, site of measurements within a given vein, exercise and food intake. Also, to document the reproducibility of the Doppler US findings in the three major HVs, in order to establish the limits of normal flow against which to assess liver pathology giving rise to abnormal flow pattern. MATERIALS AND METHODS: Thirty-two children, divided into four age groups: less than 1 year, 1-5 years, 5-12 years and 12-16 years, with four boys and four girls in each group, underwent repeated US examinations of their HVs. The HV flow pattern was recorded as triphasic = 4, diphasic = 3, monophasic = 2 or uninterpretable = 1 at three sites in each vein: peripheral, middle and proximal in the supine position in the fasting state. One recording was then obtained in the midportion of each vein in the sitting position, another one after exercise, then after a meal and lastly one by a second radiologist. Statistical analysis of variance was done of each variable alone, in combination two by two and three by three. RESULTS: HV flow pattern was different from one vein to another in the majority of the children, the right HV having the least triphasic flow. Age was highly significant, the HV flow being less triphasic in young children. Sex and position were significant for the right HV only, which was the most difficult to examine. Exercise and food intake did not change the triphasicity of flow. CONCLUSIONS: HV flow pattern differs with age and can differ from one HV to another within an apparently normal liver. Interpretation is generally reproducible from one radiologist to another. A difference of sex, seen mostly for the right HV, may be due to unfavourable Doppler angle and difficulty of interpretation. The site of measurements within a given vein, body position, exercise and food intake do not influence the triphasicity of HV flow.