Hirschsprung's disease (megacolon)

Hirschsprung's disease is a rare disorder of the large intestine (colon). It's present at birth (congenital). This potentially serious disease is more common in males than in females and can be inherited.

Normally, stool is pushed through your large intestine by muscles in your intestinal wall. These muscles are stimulated by special nerve cells in the intestinal wall. In Hirschsprung's disease, the nerve cells don't develop properly, which impairs the movement of stool. As a result, stool accumulates and expands the large intestine.

Signs and symptoms of Hirschsprung's disease often appear shortly after birth. But in mild cases, they may not become apparent until later in life. Signs and symptoms may include:

• Failure to pass meconium or stool after birth
• Constipation
• Swelling of the abdomen (distention)
• Vomiting
• Poor weight gain and slow growth in children

A doctor may confirm a diagnosis of Hirschsprung's disease by:

• Manometry, a test that measures pressure in the anus and rectum
• Tissue biopsy to examine the nerve cells
• Abdominal X-ray
• Barium enema

Treatment typically is surgical removal of a portion of or the entire bowel segment that lacks nerve cells.