Hirschsprung Disease

  • Etiology: absent ganglion cells from the rectum proximally (colonic agnaglionosis)
  • Imaging: recto-sigmoid ratio should be > 1, Hirschsprung disease causes recto-sigmoid ratio inversion so recto-sigmoid ration < 1
  • Enema: narrowed segment from rectum to transition zone
  • Complications: of missed Hirschsprung disease include chronic constipation, toxic megacolon and enterocolitis in 5-50% of uncorrected patients + 5-35% of post operative patients and which presents with fever / abdominal distension / diarrhea
  • Clinical: transition zone location – rectosigmoid (70%), left colon (15%), transverse colon / right colon / ileocecal valve (5%) so 3-5% of Hirschsprung disease is total colonic

Cases of Hirschsprung Disease

Enema of Hirschsprung disease
AP and lateral views from an enema shows the rectum and sigmoid colon to be smaller in diameter than the rest of the colon.
Gross pathological image of Hirschsprung disease
Pathological image shows a narrow caliber rectum and sigmoid colon (to the lower right) until a transition zone is encountered in the caliber of the colon (in the middle right) at which point the caliber of the colon is dilated all the way back to the hepatic flexure (upper left). The caliber of the ascending colon, appendix (middle left) and terminal ileum (lower left) are normal.