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Diseases » Hirschsprung's disease » Diagnosis

Diagnosis of Hirschsprung's disease

Diagnostic Test list for Hirschsprung's disease:

The list of medical tests mentioned in various sources as used in the diagnosis of Hirschsprung's disease includes:

Hirschsprung's disease Diagnosis: Book Excerpts

Diagnosis - Hirschsprung's disease

Tests and diagnosis discussion for Hirschsprung's disease:

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

barium enema (BAR-ee-um EN-uh-muh) x ray
manometry (ma-NOM-eh-tree)
biopsy (BY-op-see)

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 HD might be the problem. More tests will help the doctor know for sure.

Other tests to diagnose HD are manometry and biopsy:

Manometry

The doctor inflates a small balloon inside the rectum . Normally, the anal muscle will relax. If it doesn't, HD may be the problem. This test is most often done in 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.

The doctor may do one or all of these tests. It depends on the child. (Source: excerpt from What I need to know about Hirschsprung's disease: NIDDK)

Diagnostic Tests for Hirschsprung's disease: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Hirschsprung's disease.

Hirschsprung's disease: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

CONFIRMING DIAGNOSIS Rectal biopsy provides a definitive diagnosis by showing the absence of ganglion cells. Suction aspiration using a small tube inserted into the rectum may be performed initially. If this test yields inconclusive findings, diagnosis requires full-thickness surgical biopsy under general anesthesia. In older infants, barium enema showing a narrowed segment of distal colon with a sawtooth appearance and a funnel-shaped segment above it confirms the diagnosis and assesses the extent of intestinal involvement.

Significantly, infants with Hirschsprung’s disease retain barium longer than the usual 12 to 24 hours, so delayed films are usually helpful when other characteristic signs are absent. Other tests include rectal manometry, which detects failure of the internal anal sphincter to relax and contract, and upright plain films of the abdomen, which show marked colonic distention.

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Source: Professional Guide to Diseases (Eighth Edition), 2005