Critical Care Medicine

Gastrointestinal Emergencies: Hirschsprung Disease, Congenital Aganglionic Megacolon

Hirschspring Disease

Also known as: Congenital Aganglionic Megacolon

1. Description of the problem

Hirschsprung disease (HD) describes a failure of neural crest cell migration to the entire colon during intestinal development. The result is an aganglionic segment of colon that is unable to relax, causing obstruction and the potential for severe complications.

Clinical features

Distal obstruction

Abdominal distention

Delay/failure of passage of stools (including meconium)

Chronic constipation in children/adults with low-segment HD.

3. Diagnosis

Rectal biopsy - The gold standard of HD diagnosis is a rectal biopsy, with absent ganglion cells often confirmed by elevated acetylcholinesterase activity in special staining and hypertrophic nerve fibers. Rectal suction biopsy are often sufficient and can be done without general anesthesia. If nondiagnostic, a full-thickness biopsy may be necessary.

Abdominal X-ray - A distal intestinal obstruction with dilated bowel loops often suggests HD and identifies the likely transition zone

Contrast enema - A sharp transition zone often in the recto-sigmoid colon suggests the diagnosis of HD and can help surgeons locate the transition point or suggest the need for a rectal suction biopsy to confirm HD.

Anorectal manometry - especially useful for short-segment HD with the inability to relax the internal anal sphincter with balloon distention of the rectum. If the internal anal sphincter relaxes with balloon distention, HD is excluded.

4. Specific Treatment

Treatment of HD is surgical. If emergent, a colostomy is often necessary prior to a second-stage pull-through. If non-emergent, a one-stage pull-through is possible without a significant increase in the complication rate.

Prognosis

The prognosis or HD after pull-through is excellent, with near-normal anorectal function unless total colonic aganglionosis is present. Fecal incontinence and chronic constipation are the most common long-term complications.

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