Congenital pyloric atresia and associated anomalies

Congenital pyloric atresia (CPA) is a very rare condition that was first described by Calder in 1749. Commonly, CPA occurs as an isolated lesion, which has an excellent prognosis, but it can also be seen in association with other malformations, which can have a negative impact on the final outcome. The medical records of all patients with the diagnosis of CPA treated at our hospital were retrospectively reviewed for: age at diagnosis, sex, presenting symptoms, history of polyhydramnios, diagnosis, associated anomalies, operative findings, treatment and outcome. Eleven cases with the diagnosis of CPA were treated at our hospital. There were five males and six females. Seven were products of full term normal vaginal delivery and the remaining four were prematures. Their birth weights ranged from 1.2 to 3.9 kg (mean 2.2 kg). Polyhydramnios was seen in seven (63.6%). Associated anomalies were seen in six (54.5%). These included epidermolysis bullosa (EB) in three, hereditary multiple intestinal atresias (HMIA) in two including a duplication cyst in one of them, esophageal atresia in one, Down's syndrome in one, congenital heart disease in one, cleft palate in one and aplasia cutis congenital (ACC) in one. Intraoperatively, five had pyloric diaphragms, in two of them there were double diaphragms, three had pyloric atresia with a gap between the two ends and two had pyloric atresia with no gap. One of them had duodenal perforation as well as ileal perforation. The patients with pyloric diaphragms had excision of diaphragms and Heineke-Mickulicz pyloroplasty. Four of the other five patients had gastro-duodenostomy. One of them also had duodeno-jejunostomy due to associated distal duodenal atresia and excision of duplication cyst. The patient with duodenal and ileal perforation and because of the marked distension of the duodenum had reduction duodenoplasty, gastroduodenostomy, and duodeno-jejunostomy. The area of ileal perforation was resected and end-to-end anastomosis was done after correction of the associated malrotation. One patient with associated esophageal atresia had gastrostomy and gastrojejunostomy. Post-operatively, all did well initially, but subsequently, six of them died giving an overall survival of 45.5%. Sepsis was the cause of death in all of them. CPA is very rare and when it occurs in isolation it has a good prognosis. The association of CPA with HMIA is universally fatal. CPA in association with EB has a high mortality but there are encouraging results with the use of steroids and phenytoin. Sepsis continues to be the main cause of death and an associated combined immunodeficiency should be excluded.