Diagnostic dilemma and challenges in management: Hirschsprung's disease, anal stenosis and reduced interstitial cells of Cajal enteric mesenchymopathy

BMJ Case Rep. 2023 Apr 25;16(4):e252484. doi: 10.1136/bcr-2022-252484.


Hirschsprung's disease (HD) is one of the most well-known gastrointestinal motility disorders. Diagnosis and management of other lesser-known motility disorders are often challenging and tedious. We describe a teenager who was severely constipated from birth and needed intensive care admissions for life-threatening enterocolitis. She also had concomitant anal stenosis. Several rectal biopsies were unable to yield a conclusive diagnosis. Surgical level of resection had to be identified based on the motility of the bowel as determined by transit studies using oral ingestion of a milk feed labelled with Technetium-99m colloid. After completion of all operative stages, histopathological examination of the excised specimens concluded that she had short-segment HD associated with reduced interstitial cells of Cajal in the large bowel. She is currently continent, evacuating voluntarily approximately four times a day and is relieved of all her symptoms.

Keywords: Childhood nutrition (paediatrics); Medical management; Paediatric Surgery.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anorectal Malformations*
  • Constriction, Pathologic
  • Female
  • Hirschsprung Disease* / complications
  • Hirschsprung Disease* / diagnosis
  • Hirschsprung Disease* / surgery
  • Humans
  • Interstitial Cells of Cajal* / pathology
  • Intestine, Large
  • Intestines