Pyloric atresia: Five new cases, a new association, and a review of the literature with guidelines

Background/Purpose: Pyloric atresia is an uncommon condition Occurring in 1 of 100,000 live births. When occuring in isolation, the clinical course us ually is uncomplicated after surgical treatment. However, it may occur in a ssociation with other congenital abnormalities. The authors present 5 new c ases, 3 of associated abnormalities including 1 of esophageal atresia and 2 of agenesis of the gall bladder and malrotation. Agenesis of the gall blad der has not been described previously in combination with pyloric atresia. The literature has been reviewed and guidelines are suggested for the manag ement. Methods: The case records of 4 neonates who presented to the author's insti tution between January 1998 and June 1999 and 1 who presented at another ce nter in 1991 were reviewed. A Medline literature search was performed, and guidelines were developed for the management of this condition based on our cases and the literature review. Results: Patients 1 and 5 had no associated anomalies. Patient 2 had associ ated esophageal atresia, tracheoesophageal fistula, atrial septal defect, c rossed renal ectopia, malrotation, and absent gall bladder. Patient 3 had a rectovestibular fistula, vaginal atresia, atrial septal defect, malrotatio n absent gallbladder, and absent extrahepatic portal vein. Patient 4 had ep idermolysis bullosa. Patients 2 and 5 had unremarkable recoveries, patients 2 and 3 had markedly delayed gastric emptying that responded to cisapride. Patient 3 has portal hypertension and remains under close follow-up. Patie nt 4 died at 22 days of age of pseudomonas sepsis. Conclusions: Based on our cases and literature review, we have adopted the following guidelines: (1) All children with pyloric atresia should be scree ned for multiple anomalies. (2) Delayed gastric emptying should be consider ed early and may respond to prokinetic agents, (3) Association with Epiderm olysis bullosa should not preclude surgical treatment. (4) A skin biopsy sp ecimen should be taken at the time of surgery for electron microscopy if th ere is a family history of epidermolysis bullosa. J Pediatr Surg 35:1242-12 45. Copyright (C) 2000 by W.B. Saunders Company.