Hirschsprung's Disease: A Rare Entity in Adults

J Coll Physicians Surg Pak. 2019 Jul;29(7):674-676. doi: 10.29271/jcpsp.2019.07.674.

Abstract

Hirschsprung's disease (HD), a classic disease of childhood, may rarely escape diagnosis and lead to unique presentations in adults. By definition, the disease involves the rectosigmoid colon and is the result of a birth defect characterised by the absence of nerve cells responsible for the movement of the colon; thereby leading to functional obstruction. We present here a case of an 18-year girl who visited multiple doctors for the complaints of chronic constipation, abdominal distension, and failure to thrive since infancy. Based on a full-thickness rectal biopsy, she was ultimately diagnosed as a case of HD in our Unit. A defunctioning loop ileostomy for colonic decompression, followed by a Swenson Abdominoperineal Pull- Through at a six weeks interval was done, which proved curative.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / diagnosis*
  • Hirschsprung Disease / surgery
  • Humans