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Virtual Pediatric Hospital: Paediapaedia: Hirschsprung Disease (Colonic Agangliosis) Paediapaedia: Gastrointestinal Diseases

Hirschsprung Disease (Colonic Agangliosis)

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
Eighty percent present in the first 6 weeks of life. There is a 4:1 M:F ratio. It is the cause of 15-20% of newborn intestinal obstructions. A common presentation is failure to pass meconium in the first 24 hours coupled with a gradual onset of abdominal distension and vomiting. Distal short segment disease can present months or years later in life with persistent and progressive constipation from the newborn period that can lead to anorexia, poor nutrition and growth retardation. Older children can also present with Hirschsprung enterocolitis with diarrhea and rectal bleeding.

Etiology/Pathophysiology:
Large bowel obstruction due to congenital absence of ganglion cells in the myenteric plexus of the colon starting at a transition point and extending all the way to the rectum. Peristaltic waves cannot pass beyond this transition point which leads to a functional obstruction. The transition zone is seen most frequently in the rectosigmoid region, in 70% of cases, but it can be seen in the small bowel. Five to ten percent of cases involve the entire colon and are called total colonic Hirschsprung disease. The most serious complication is enterocolitis which has progressive colonic dilation with decreased ileal and colonic fluid resorption, stasis with bacterial overgrowth and mucosal ischemia which can progress to acute fluid loss into the bowel with diarrhea and dehydration leading to shock, anuria and death. A high percentage (17-28%) of children with Hirschsprung disease develop enterocolitis.

Pathology:
The definitive diagnosis is made by a full thickness rectal biopsy which shows a lack of ganglion cells in the myenteric plexus of the colon.

Imaging Findings:
The plain film may show multiple dilated loops of small bowel with air fluid levels. The radiographic diagnosis is made by demonstrating the transition zone, but this may not be possible in the newborn because it takes weeks for the bowel to dilate. The aganglionic segment is of normal caliber without stricture or constriction. The normally innervated bowel is dilated above the transition zone.

In total colonic Hirschsprung's Disease, the colon is of a normal caliber and no transition zone is identified within it. The colon may appear somewhat foreshortened with a loss of the normal sigmoid redundancy, and the ileum is markedly dilated as this is where the transition zone is.

In Hirschsprung's enterocolitis, the colon is dilated, and pneumatosis may be present. Enemas should be avoided during bouts of enterocolitis because of the possibility of perforating the colon.

DDX:
Low Bowel Obstruction in a Newborn

References:

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