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 ratio < 1
  • Enema: narrowed segment of colon 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

Radiology 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.

Radiology Cases of Total Colonic Hirschsprung Disease

Surgery Cases of Hirschsprung Disease

Surgical image of Hirschsprung disease
Surgical image shows a visible transition zone in the mid sigmoid colon with the forceps at the actual site of transition. The sigmoid colon (to the right) is dilated and had ganglion cells on biopsy. The rectum (to the left), descending into the pelvis, is not dilated and had no ganglion cells on biopsy.
Surgical image of Hirschsprung disease
Surgical image shows decompressed small bowel (on the left) and an extremely dilated sigmoid colon which contained ganglion cells (in the upper middle) with a transition zone near the end of the sigmoid colon (on the right) and a narrowed rectosigmoid colon and rectum (in the lower middle) which turned out to be aganglionic.
Surgical image of Hirschsprung disease
Surgical image shows a visible transition zone between the dilated sigmoid colon (in the upper middle being pinched between the two fingers) which contained ganglion cells and the narrowed rectum (in the lower middle) which was found to be aganglionic.

Surgery Cases of Total Hirschsprung Disease

Surgical image of Hirschsprung disease
Surgical image shows a transition zone in the terminal ileum with the proximal portion of the small bowel above the transition zone dilated (on the right) and the non dilated distal small bowel (on the left). The frozen biopsies showed no ganglion cells from the rectum all the way up to the terminal ileum.

Gross Pathology Cases of Hirschsprung Disease

Gross pathological image of Hirschsprung disease
Gross pathological image of the recto-sigmoid colon shows the dilated proximal portion of sigmoid colon which contained ganglion cells (on the left) separated by a transition zone from the narrowed distal portion of rectum (on the right) which turned out to be aganglionic.
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.

Gross Pathology Cases of Total Colonic Hirschsprung Disease