Congenital pyloric atresia with epidermolysis bullosa: A case series

Abstract

Background: Carmi syndrome is the name given to the association of congenital pyloric atresia and epidermolysis bullosa. It has a high mortality. Case series: We report 3 neonates with features of multiple skin blisters and a classical X-ray picture of a single bubble appearance. Two of them underwent surgery while 1 succumbed to sepsis in the pre-operative period. One baby had delayed mortality and the other is doing well in follow-up. Conclusions: Carmi syndrome should be kept as a differential diagnosis in neonates with skin blisters and feed intolerance. Early recognition with prompt medical and surgical management may contribute to a successful outcome.

Keywords

• Neonate
• Gastric outlet obstruction
• Carmi syndrome
• Pyloroplasty