Colonic atresia and hirschsprung disease: a case report and review of the literature

J Med Case Rep. 2023 Jun 7;17(1):233. doi: 10.1186/s13256-023-03969-z.

Abstract

Background: Colon atresia is one of the rarest congenital anomalies of the gastrointestinal tract, with an incident range of between 1 in 10,000 and 66,000 live births. Type I colonic atresia affects only the mucosal layer of the intestine and spares the intestinal wall and mesentery. Hirschsprung Disease is a rare association of Colon atresia and is usually diagnosed as a complication of atresia treatment.

Case presentation: This study reports a 14-h term white middle-eastern female infant with type I transverse colonic atresia complicated by the association of Hirschsprung disease and provides a brief literature review of the topic. She presented with poor feeding, weakness, and failure to pass meconium, and her abdominal X-ray showed complete distal bowel obstruction. The presence of Hirschsprung disease was realized after complications of atresia surgery. The infant underwent a total of three surgeries involving an end-to-end anastomosis of the atresia, colostomy formation following anastomosis leakage, and Hirschsprung surgery. The patient ultimately expired.

Conclusions: The association between colonic atresia and Hirschsprung disease poses a diagnostic and therapeutic challenge. Considering Hirschsprung disease as a possible association in colon atresia patients can facilitate proper decision-making in the course of treating colon atresia cases and achieving better outcomes.

Keywords: Case report; Colon atresia; Hirschsprung disease; Neontology; Newborn.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Colostomy
  • Female
  • Hirschsprung Disease* / complications
  • Hirschsprung Disease* / diagnosis
  • Hirschsprung Disease* / surgery
  • Humans
  • Infant
  • Intestinal Atresia* / complications

Supplementary concepts

  • Colonic Atresia