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We present a case of a premature infant with a presumed obstructive uropathy found to be a megalourethra leading to a perinatal postrenal failure. A megalourethra - an uncommon cause of urethral dilatation - is a congenital, non-obstructive anomaly of the penile erectile tissue. We think that a distal stenosis resulted in dysplasia of the penile tissue and an aspect of a megalourethra. Further diagnostic workup included urinary tract sonograms, a voiding cystourethrogram and MAG3 scintigrafy. Initially the patient was managed with supportive care such as a suprapubic urinary catheter, followed by surgical intervention (Bengt Johanson)., Competing Interests: Die Autoren geben an, dass kein Interessenkonflikt besteht., (© Georg Thieme Verlag KG Stuttgart · New York.)

Background: Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive disease with blister formation within the lamina lucida due to mutations in the integrin β4 (ITGB4) and α6 (ITGA6) genes., Case Report: A female preterm infant, first child of healthy non-consanguineous parents, was born at 26 + 4 weeks of gestation by caesarean section, following polyhydramnion and abruption of placenta. She presented with extensive areas of denuded skin on both lateral sides of the head, neck and extremities. Auricles were hypoplastic. Abdominal ultrasound and X-ray were suggestive of pyloric atresia which was revised surgically on the 4th day of life. Further course was complicated by progressive skin detachment, sepsis, and renal insufficiency with fatal outcome at 18 days of age. Immunofluorescence mapping of cryopreserved skin showed junctional cleft formation with negative staining for integrin α6 and integrin β4. Mutational analysis disclosed compound heterozygosity for two novel nonsense mutations in the ITGB4 gene: c.600dupC/p.F201fsX14 and c.2533C>T/p.Q845X. 2 subsequent pregnancies were terminated following prenatal diagnosis disclosing the same ITGB4 mutations, a 4th pregnancy was unaffected., Conclusion: We describe a case of lethal JEB-PA with negative immunoreactivity to integrin α6 and integrin β4 predicting a poor outcome. Identification of compound heterozygosity for two novel ITGB4 mutations in the affected preterm infant permitted prenatal diagnosis and finally birth of a healthy sibling., (George Thieme Verlag KG Stuttgart · New York.)

Aim: To assess the prevalence of gallstones in normal neonates., Method: We used sonography to assess the gallbladder in 3500 unselected infants between 1993 and 1995. Examination was performed during the first four days of life as part of a prospective neonatal screening study evaluating hip and renal abnormalities., Results: We found sludge or gallstones in 19 children (0.5%). In 4 of 11 patients followed for up to 18 months, the gallstones persisted. In 3 of the cases, there was a family history of gallstones. None of the children had signs of cholestasis. Three were treated with ursodesoxycholic acid 15-20 mg/kg (per day): only one responded., Conclusion: About 0.5% of neonates have gallstones or gall bladder sludge; this is a higher percentage than previously thought. In one-third of the patients who were followed, the gallstones remained. Persistence was more likely in those with a positive family history for gallstones.