by Ren Huff

Created on: December 22, 2008

Hirschsprung's disease is a congenital disease that affects the large intestine (colon). Nerve cells are missing in a portion of the muscles in the colon causing a child to have difficulty passing stools, or even absorbing the nutrients in food.

Diagnosing this disease properly can be difficult because if it is not caught at birth due to maybe being a mild form then the child may be treated for constipation and nothing more. Therefore it is best that the parent/parents notify their child's physician of all symptoms the child is experiencing, not just constipation.

In a newborn the symptoms of Hirschsprung's disease are: failure to pass stool within the first two days of birth, vomiting (sometimes vomiting green bile), or diarrhea.

In children the symptoms may include: constipation, diarrhea, distended abdomen, malabsorption of food nutrients, weightloss, or infections in the colon.

If a child is experiencing any of these symptoms it is best to visit a Pediatric Gastroenterologist (G.I.) for a thorough check. Once the G.I. gets a history of the child's health, he/she will then determine if tests for Hirschsprung's disease should be ordered. If so, the child may undergo a number of tests in order for the physician to make a proper diagnosis.

An Abdominal X-ray will determine if and how much stool is backed up into the colon. It will also show the level of air in the colon and if there is any part of the colon that is overstretched. Decreased air is cause for concern.

If the x-ray is abnormal the G.I. may then order a Barium Enema. This is an x-ray after having barium administered via enema that allows the G.I. to see the ganglia nerve cells in the colon. If any are missing there is cause for concern of Hirschsprung's disease. This test is a bit uncomfortable due to the barium distending the bowel and the G.I. may add air to get a more clear picture of the ganglia nerve cells.

The G.I. may then order a Manometry, but this is usually if the child is older or an adult. A balloon is incerted into the rectum via a small tool. It is then inflated. The muscles should relax once the baloon is inflated. If it is not there is concern of Hirschsprung's disease.

A Sigmoidoscopy may be ordered to gain a biopsy of the colon. This is similar to a colonoscopy but the tool is not incerted as far into the colon. The G.I. will look at the biopsy under a microscope to look at the ganglia nerve cells to determine if any are missing.

If any of these tests prove positive for missing ganglia nerve cells then Hirschsprung's disease will be diagnosed. The next step will be surgery to remove the section of colon that is missing the cells and reconnect the colon to the rectum.

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