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Congenital Aganglionic Megacolon - Hirschsprung Disease

Diagnosis & Tests

How is the disease diagnosed?

The healthcare provider will first do a physical exam. Abdominal swelling may be present. There may not be any fecal material in the anal canal or rectum. These are the areas in which stool is stored before it leaves the body. Also, there may be a gush of pale, liquid stool and gas as the healthcare provider withdraws a finger after performing the rectal exam. Other tests are done to confirm the diagnosis. These may include:

rectal manometry. This test records pressure changes within the colon and rectum. It is used to evaluate how the bowel contracts and relaxes.

barium enema, an x-ray exam of the colon and rectum

a rectal biopsy. In this procedure, a small piece of bowel tissue is removed. The tissue is examined under a microscope to see if nerve cells are present.

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