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Tests and diagnosis
By Mayo Clinic staffTo determine whether Hirschsprung's disease is present, your child's doctor may conduct a series of tests. This may include one or all of the following:
- Abdominal X-ray. If Hirschsprung's is present, as stool backs up in the colon, the X-ray may reveal decreased air in the colon or areas in which the colon has stretched wider than normal.
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Barium enema. This diagnostic test allows the doctor to evaluate the entire colon with an X-ray. Barium, a contrast dye, is placed into the bowel in an enema form. The barium fills and coats the lining of the bowel, creating a clear silhouette of the colon and rectum. Air may also be added to provide better contrast on the X-ray.
In some cases, another liquid called diatrizoate (Gastrografin, Gastroview, Hypaque) may be used instead of barium. This liquid may be used in newborns to help remove a hard first stool. It causes water to be pulled into the intestine, which softens the stool.
The test typically takes about 20 minutes and can be somewhat uncomfortable because the contrast agent and air distend the bowel. There's also a slight risk of perforating the colon wall.
In cases of Hirschsprung's disease, the areas of the colon missing the ganglia nerve cells often appear narrowed. A follow-up exam 24 hours later may show remaining barium in the colon. This problem passing the barium may also indicate Hirschsprung's disease.
- Manometry. This test is typically done on older children and adults. During the test, the doctor inflates a balloon inside the rectum. The anal muscle should relax as a result. If it doesn't, Hirschsprung's disease may be the cause.
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Biopsy. The doctor surgically removes a sample of tissue from the colon for study under a microscope. He or she looks for evidence of missing ganglia nerve cells, which would indicate Hirschsprung's disease.
In rectal suction biopsy, the doctor removes some cells from the mucous lining of the colon by using a suction device. Because this doesn't involve cutting into the colon tissue, no anesthesia is necessary. If the biopsy shows that ganglia are present, Hirschsprung's disease is not diagnosed. If no ganglia cells are seen in the sample tissue, a full-thickness biopsy is needed to confirm Hirschsprung's disease.
In full-thickness biopsy, more tissue from deeper layers of the colon is removed surgically or through rectal suction for study under the microscope. Absence of ganglia cells indicates Hirschsprung's disease.
- What I need to know about Hirschsprung's disease. National Digestive Diseases Information Clearinghouse. http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/. Accessed Sept. 12, 2008.
- Hirschsprung's disease. American Academy of Pediatrics. http://familydoctor.org/online/famdocen/home/children/parents/special/birth/906.htm. Accessed Sept. 12, 2008.
- Wesson, DE. Congenital ananglionic megacolon (Hirschsprung disease). http://www.uptodate.com/home/index.html. Accessed Sept. 12, 2008.
- Hirschsprung's disease. American Pediatric Surgical Association. http://www.eapsa.org/parents/resources/hirschsprungs.cfm. Accessed Sept. 12, 2008.
- Hirschsprung's disease. Family Practice Notebook. http://www.fpnotebook.com/GI/Neuro/HrschsprngsDs.htm. Accessed Sept. 12, 2008.
- Endom E. Emergency complications of Hirschsprung disease. http://www.uptodate.com/home/index.html. Accessed Sept. 12, 2008.
- Picco M [expert opinion]. Mayo Clinic, Rochester, Minn. Sept. 17, 2008.
