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Hirschsprung Disease (HD)

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Diagnosis of Hirschsprung Disease

Hirschsprung (pronounced HURSH-sprung) Disease (HD), is a disease of the * large intestine, which usually occurs in children.

To find out if a person has Hirschsprung Disease, the doctor will do one or more tests:

• 1) Barium Enema X-Ray - pronounced BAR-ee-um EN-uh-muh
• 2) Manometry - pronounced ma-NOM-eh-tree
• 3) Biopsy - pronounced BY-op-see

1) 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 sometimes used in newborns to help remove a hard first * stool. Gastrografin causes water to be pulled into the intestine, and the extra water softens the stool.

In places where the * nerve cells are missing, the intestine looks too narrow. If a narrow large intestine shows on the x-ray, the doctor knows Hirschsprung Disease might be the problem. More tests will help the doctor know for sure.

2) Manometry

The doctor inflates a small balloon inside the * rectum. Normally, the anal muscle will relax. If it doesn't, Hirschsprung Disease may be the problem. This test is most often done in older children and adults.

3) Biopsy

This is the most accurate test for Hirschsprung Disease. The doctor removes and looks at a tiny piece of the intestine under a microscope. If the nerve cells are missing, Hirschsprung Disease is the problem.

The doctor may do one or all of these tests. It depends on the child.

Definitions For This Page - In Alphabetical Order

* Anus
Pronounced - AY-nus
Anus is the opening at the end of the large intestine. Stool leaves the body through this opening.

* Large Intestine
Pronounced - in-TESS-tin
The large intestine is a long tube that makes stool and carries it out of the body.

* Nerve Cells
Nerves are long fibers that carry messages from the body to the brain, and back again, like telephone lines. The messages often tell a body part what to do. Nerve cells are part of nerves. In the intestine, the nerve cells tell muscles how to push the stool along.

* Rectum
Pronounced - REK-tum
Rectum is the last section of the large intestine.

* Stool
Stool is solid waste from the body, the material that gets passed in a bowel movement.

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References:
National Digestive Diseases Information Clearinghouse (NDDIC)
October 2004
digestive.niddk.nih.gov

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