Colonic atresia and Hirschsprung's disease in a neonate: A case report.

INTRODUCTION: Colonic atresia is a rare form of intestinal atresia that can be encountered in neonates. Although uncommon, other disease processes can be found simultaneously including malrotation, additional atresias, gastroschisis, and Hirschsprung's disease.

CASE PRESENTATION: A 2-day-old female neonate with known maternal polysubstance use was found to have colonic atresia on contrast enema after emesis and failure to pass meconium. Abdominal exploration revealed a blind ending cecum with evidence of ischemia along with an atretic transverse colon. An ileocecectomy with end ileostomy and transverse colon mucous fistula creation were performed. After eventual ileostomy reversal at 5 weeks of age, she struggled with intermittent oral intolerance and inconsistent bowel function. Re-exploration with ileostomy and gastrostomy tube placement was performed with additional biopsies revealing Hirschsprung's disease.

CLINICAL DISCUSSION: Concomitant colonic atresia and Hirschsprung's disease is a rare clinical entity that provides challenges in diagnosis and definitive surgical management. The suspected source of atresia in this case was presumed to be due to an intra-uterine vascular accident given maternal polysubstance use. Delays in diagnosis can lead to increased patient morbidity.

CONCLUSION: Even with a clear suspected etiology for colonic atresia, surgeons must maintain a high clinical suspicion for additional pathologies including but not limited to Hirschsprung's disease. Rectal suction biopsies should be performed if clinical suspicion arises for Hirschsprung's disease.