Colonic diverticulosis in an infant: A clue to total colonic Hirschsprung disease

J Pediatr Surg. 2018 Jul;53(7):1437-1439. doi: 10.1016/j.jpedsurg.2018.03.017. Epub 2018 Mar 23.

Abstract

Total colonic aganglionosis is a rare phenotype of Hirschsprung disease (HD). While the diagnosis is generally established within the neonatal period there are reports of delayed presentation. In this case, we describe a 9-month old girl with no previous medical or surgical history who presented with a small bowel obstruction. A contrast enema performed as part of the work up demonstrated right sided colonic diverticula with no other anatomical abnormalities. Surgical intervention was required to manage the obstruction and colonic biopsies were consistent with HD. This case highlights the association of the unusual finding of colonic diverticula with total colonic HD in infants.

Keywords: Colonic diverticula; Contrast enema; Hirschsprung disease; Small bowel obstruction.

Publication types

  • Case Reports

MeSH terms

  • Digestive System Surgical Procedures
  • Diverticulosis, Colonic / diagnostic imaging*
  • Diverticulosis, Colonic / surgery
  • Female
  • Hirschsprung Disease / diagnostic imaging*
  • Hirschsprung Disease / surgery
  • Humans
  • Infant
  • Intestinal Obstruction / surgery