Uncommon Complication of Pediatric Umbilical Hernia-Spontaneous Evisceration: Case Report and Literature Review.

The umbilical hernia is common in children. Most of the cases have a spontaneous regression around the age of 3 years. Complications are very rare, and thus surgery is not routinely indicated before the age of 3 years. We report an exceptional case of spontaneous rupture of an umbilical hernia with emphasis on the management of this rare complication and a literature review of similar cases.

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. Depending on additional symptoms, WS is classified into four subtypes, WS1-WS4. Absence of additional features characterizes WS2. The association of facial dysmorphic features defines WS1 and WS3, whereas the association with Hirschsprung disease (aganglionic megacolon) characterizes WS4, also called "Waardenburg-Hirschsprung disease." Mutations within the genes MITF and SNAI2 have been identified in WS2, whereas mutations of EDN3, EDNRB, and SOX10 have been observed in patients with WS4. However, not all cases are explained at the molecular level, which raises the possibility that other genes are involved or that some mutations within the known genes are not detected by commonly used genotyping methods. We used a combination of semiquantitative fluorescent multiplex polymerase chain reaction and fluorescent in situ hybridization to search for SOX10 heterozygous deletions. We describe the first characterization of SOX10 deletions in patients presenting with WS4. We also found SOX10 deletions in WS2 cases, making SOX10 a new gene of WS2. Interestingly, neurological phenotypes reminiscent of that observed in WS4 (PCWH syndrome [peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease]) were observed in some WS2-affected patients with SOX10 deletions. This study further characterizes the molecular complexity and the close relationship that links the different subtypes of WS.

[Perineal ectopic testis: report of four paediatric cases]. / L'ectopie testiculaire périnéale. A propos de quatre observations pédiatriques.

Perineal ectopic testis is a rare congenital malformation in which the testis is abnormally situated between the penoscrotal raphe and the genitofemoral fold. The authors report four new cases in children aged 2 months, 6 months, 2 years and 5 years. The abnormality was associated with an inguinal hernia in one case. The diagnosis was based on the presence of an empty scrotum or perineal swelling. Treatment, via an inguinal incision, consisted of orchidopexy in a dartos pouch with a favourable course in every case. The aetiopathogenesis of perineal ectopic testis is controversial. It can be easily diagnosed by palpation of the testis in the perineal region. Orchidopexy in a dartos pouch must be performed early, and does not raise any particular problems because of the sufficient length of the spermatic cord. The functional prognosis, always difficult to define, appears to be identical to that of other sites.

Results from the French National Esophageal Atresia register: one-year outcome.

BACKGROUND: The aim of the present national prospective population-based study was to assess the early morbidity of esophageal atresia (EA). METHODS: All 38 multidisciplinary French centers that care for patients with EA returned a specific questionnaire about the 1-year outcome for each patient. This information was centralized, checked, and entered into a database. RESULTS: From the total population of 307 EA patients born in 2008 and 2009, data about the 1-year outcome were obtained from 301 (98%) patients, of whom 4% were lost to follow-up and 5% died. Medical complications occurred in 34% of the patients: anastomotic leaks (8%), recurrent tracheoesophageal fistula (4%), and anastomotic stenosis (22%); all of the latter group needed dilation (median, 2 dilations/patient). A new hospitalization was required for 59% of patients (2.5 hospitalizations/patient) for digestive (52%) or respiratory (48%) reasons. Twelve percent of patients required antireflux surgery at a median age of 164 days (range, 33-398 days), and 1% underwent an aortopexy for severe tracheomalacia. The weight/age Z-score was -0.8 (range, -5.5 to 3.7 months) at 12 months. Fifteen percent of patients were undernourished at 12 months of age, whereas 37% presented with respiratory symptoms and 15% had dysphagia at the last follow-up. Significant independent factors associated with medical complications were anastomotic esophageal tension (p = .0009) and presence of a gastrostomy (p = .0002); exclusive oral feeding at discharge was associated with a decreased risk of complications (p = .007). CONCLUSIONS: Digestive and respiratory morbidities remain frequent during the first year of life and are associated with difficult anastomosis and lack of full oral feeding.

Pitfalls in the diagnosis and management of obstructive uterovaginal duplication: a series of 32 cases.

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 müllerian duct development, contrasting with the classic definition of this malformation.