How is Hirschsprung disease (HD) diagnosed?

Diana Meeks
Diana Meeks on behalf of Sigma Nursing
Family Practitioner

To find out if a person has Hirschsprung disease (HD), the doctor will conduct one or more of the following tests:

Barium enema X-ray: An X-ray is a black-and-white picture of the inside of the body. The picture is taken with a special machine that uses a small amount of radiation. For a barium enema X-ray, the doctor puts barium through the anus into the intestine before taking the picture. Barium is a liquid that makes the intestine show up better on the X-ray.
In some cases, instead of barium another liquid, called Gastrografin, may be used. Gastrografin is also used in newborns to remove a hard first stool. Gastrografin causes water to be pulled into the intestine. This extra water softens the stool.

In places where the nerve cells are missing, the intestine appears very narrow. If a narrow large intestine shows on the X-ray, the doctor knows that HD might be the problem. More tests will confirm the doctor's diagnosis. Manometry: The doctor inflates a small balloon inside the rectum. Normally, the anal muscle will relax. If it does not, HD may be the problem. This test is usually done on older children and adults. Biopsy: This is the most accurate test for HD. The doctor removes and looks at a tiny piece of the intestine under a microscope. If the nerve cells are missing, HD is the problem.

This answer is based on source information from the National Institute of Diabetes and Digestive and Kidney Diseases.

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