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Hirschsprung's Disease

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Diagnosis

There are two tests commonly used to diagnose Hirschprung's disease. The first is a contrast enema. During this test a special liquid, called contrast, fills the large intestine through a small tube placed in the anus. X-ray images are taken as the liquid enters the intestine. If Hirschsprung's disease is present, the pictures of the intestine will show a wide or dilated area next to a narrow area of intestine. The narrow area is the part of the bowel without ganglion cells. The wide area of the intestine is healthy bowel filled with stool that can't be passed.

The second study involves a biopsy or obtaining tissue samples of the large intestine, near the anus. The pediatric surgeon removes two to three tiny samples of intestine using a narrow suction tube placed into the anus. This procedure is not painful.

Biopsy samples are examined under a microscope for the ganglion cells. If ganglion cells are seen in the tissue samples, the intestine is normal and there is no Hirschsprung's disease. If no ganglion cells are seen, Hirschsprung's disease is diagnosed.

While most babies are diagnosed soon after birth, some children are not diagnosed until later in life. These children often have severe constipation, diarrhea, slow weight gain or a life-threatening infection of the bowel called "enterocolitis."

 

Reviewed by health care specialists at UCSF Children's Hospital.
Last updated January 15, 2008

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