Hirschsprung Disease

Etiology: Absent ganglion cells from the rectum proximally (colonic aganglionosis)
AXR in neonate: Distal small bowel obstruction with distended air-filled loops of distal ileum
Imaging Enema:
— Recto-sigmoid ratio should be greater than 1
— Hirschsprung disease causes recto-sigmoid ratio inversion so recto-sigmoid ratio is less than 1
— Transition zone with narrowed segment of uninnervated colon from rectum to transition zone and dilated innervated bowel proximal to it
DDX:
Complications:
— Most common cause of colonic perforation in the first year of life
— Chronic constipation
— Toxic megacolon and enterocolitis in 5-50% of uncorrected patients and 5-35% of post operative patients and which presents with fever and abdominal distension and diarrhea
Treatment: Duhamel procedure is treatment option in which aganglionic colon is resected to rectum with end-to-side anastomosis where aganglionic portion is anterior and normal innervated portion is posterior
Clinical:
— Transition zone location – rectosigmoid (70%), left colon (15%), transverse colon and right colon and ileocecal valve (5%) so 3-5% of Hirschsprung disease is total colonic
— Hirschsprung disease is associated with Trisomy 21

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.

Enema in Hirschsprung disease — Lateral image from an enema shows that the rectum is narrower in diameter than the sigmoid colon. The recto-sigmoid ratio is < 1, thus there is recto-sigmoid inversion. The sigmoid colon is packed with stool.

Radiology Cases of Total Colonic Hirschsprung Disease

Enema of total colonic Hirschsprung diseae — Lateral image from an enema (right) shows the caliber of the rectum to be slightly narrower than the caliber of the sigmoid colon in the center of the AP image of the enema (left) although no definite transition zone was observed. The remainder of the colon was of a normal caliber.

Radiology Cases of Hirschsprung Disease With Hirschsprung Enterocolitis

Enema of Hirshsprung enterocolitis — AXR AP (above) shows an obstructive bowel gas pattern with multiple dilated loops of small bowel. AP image from an enema (below left) shows the contour of the entire colon to have an irregular, serrated appearance. The terminal ileum was refluxed. Lateral image from the enema (below right) shows the diameter of the rectum to be less than the diameter of the sigmoid colon (recto-sigmoid inversion).

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.

Histopathology Cases of Hirschsprung Disease

Histopathology image of Hirschsprung disease — Histopathological image of H&E stained section shows a conspicuous lack of ganglion cells both within the myenteric and submucosal plexuses; the nerves are variably prominent.

Histopathology image of Hirschsprung disease — Histopathological image H&E stained section shows a conspicuous absence of ganglion cells within the submucosal plexus and the presence of thickened submucosal nerves. Ganglion cells are also absent from the myenteric plexus.

Histopathology image of Hirschsprung disease — Histopathological image of acetylcholinesterase stained section illustrates the increase in positively (darkly) staining fibers within the lamina propria and muscularis propria which, in the absence of ganglion cells, is diagnostic of Hirschsprung disease.