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Hirschsprung's Disease

What You Need To Know


Updated December 07, 2003

Children with Hirschsprung's disease lack the nerve cells that enable intestinal muscles to move stool through the large intestine (colon). Stool becomes trapped in the colon, filling the colon and causing it to expand to larger than normal. Hirschsprung's disease is also called megacolon. It is a congenital disease, which means a person is born with it. The disease may also be hereditary, which means a parent can pass it to a child. Hirschsprung's disease affects mainly infants and children.

Although symptoms usually begin within a few days after birth, some people don't develop them until childhood or even adulthood. In infants, the primary symptom is not passing meconium, an infant's first bowel movement, within the first 24 to 48 hours of life. Other symptoms include constipation, abdominal swelling, and vomiting. Symptoms in older children include passing small watery stools, diarrhea, and a lack of appetite.

Physicians diagnose Hirschsprung's disease through rectal manometry, a lower gastrointestinal (GI) series, and rectal biopsy. Rectal manometry involves recording pressure changes within the colon and rectum. In a lower GI series, x-rays are used to measure the width of the colon and rectum. Rectal biopsy involves removing a piece of rectal tissue to learn whether the nerve cells that control intestinal muscle contractions are present.

Colostomy is the most effective treatment for Hirschsprung's disease. In a colostomy, the surgeon removes the affected part of the colon. The top half of the remaining colon is then connected to a surgically created hole, called a stoma, on the abdomen. Stool can leave the body through this hole while the lower part of the colon heals. Later, the surgeon will reconnect the colon inside the body and close the stoma. The patient will then be able to have normal bowel movements.

reproduced from NIH Publication No. 99-4635

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