Congenital pyloric atresia: clinical features, diagnosis, associated anomalies, management and outcome

Abstract

Background: Congenital pyloric atresia (CPA) is very rare and usually seen as an isolated anomaly, which has an excellent prognosis. CPA can be associated with other anomalies or familial and these are usually associated with other hereditary conditions with poor prognosis. This review is based on our experience with 20 infants with CPA.

Patients and methods: This is a review of CPA, highlighting its clinical features; associated anomalies; and aspects of diagnosis, management and outcome.

Results: This review is based on our experience with 20 patients with CPA (nine male and 11 female). Their mean birth weight was 2.1 kg (1.1-3.9 kg). Polyhydramnios was seen in 13 (65%) patients. Seven patients were full-term and the remaining 13 were premature. Two were brothers and four were members of the same family. Isolated CPA was seen in seven (35%) patients and 13 had associated anomalies. Epidermolysis bullosa was seen in eight (40%) patients and multiple intestinal atresias in five (25%). Three patients had associated esophageal atresia. Pyloric diaphragm was the most common and seen in 13 patients including double diaphragms in two followed by pyloric atresia with a gap in four and pyloric atresia without a gap in three. All patients did well in the early postoperative period; however, 10 died later giving an overall survival of 40%. Sepsis was the main cause of death.

Conclusion: CPA is a very rare malformation that can be familial and inherited as an autosomal recessive. It can either occur as an isolated lesion with an excellent prognosis, or be associated with other anomalies. The overall prognosis of CPA, however, is still poor, and this is due to the frequent-and often fatal-associated anomalies.

Keywords: aplasia cutis congenita, congenital pyloric atresia, epidermolysis bullosa, hereditary multiple intestinal atresia