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

## TL;DR

A neonate with colonic atresia and Hirschsprung's disease highlights diagnostic and surgical challenges in rare combined gastrointestinal conditions.

## Contribution

This case report emphasizes the importance of considering Hirschsprung's disease alongside colonic atresia for accurate diagnosis and management.

## Key findings

- Colonic atresia and Hirschsprung's disease co-occurrence is rare and complex to manage.
- Rectal suction biopsy is crucial for diagnosing Hirschsprung's disease even in cases of colonic atresia.
- Reliance on rectosigmoid ratio and malfixed colonic segments may not be sufficient for diagnosing Hirschsprung's disease.

## Abstract

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.

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.

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.

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.

•Colonic atresia with concomitant Hirschsprung's disease is a challenging clinical entity.•Deviation in clinical course should prompt repeat rectal suction biopsy.•Rectosigmoid ratio and malfixed colonic segments are not reliable for diagnosis in all cases of Hirschsprung's disease.

Colonic atresia with concomitant Hirschsprung's disease is a challenging clinical entity.

Deviation in clinical course should prompt repeat rectal suction biopsy.

Rectosigmoid ratio and malfixed colonic segments are not reliable for diagnosis in all cases of Hirschsprung's disease.