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Hirschsprung's disease causes blockage of the large intestine due to abnormal nerve development in the bowel. It is a congenital condition, which means it is present from birth. It occurs five times more frequently in males than in females. Hirschsprung's disease is sometimes associated with other inherited or congenital conditions such as Down syndrome.
Hirschsprung's disease is caused by an abnormality in nerve and muscle function. Muscle contractions in the normal gut help digested materials move through the intestine. This is called peristalsis. Nerves between the muscle layers trigger the contractions. In Hirschsprung's disease, the nerves (called ganglion cells) are missing from a short or long part of the bowel. Areas without these nerves cannot push material through. This causes a blockage.
Intestinal contents build up behind the blockage causing the bowel and abdomen to become swollen. If the condition is severe, a newborn child may fail to pass meconium (first stool) or stool, and the newborn may vomit. Hirschsprung's disease causes about 25 percent of all newborn intestinal obstructions.
Milder cases may not be diagnosed until a later age. In older children, the disease may cause chronic constipation, abdominal swelling and failure to thrive.
Symptoms of Hirschsprung's disease include:
Common exams for diagnosing Hirschsprung's disease include:
Tests used to help diagnose Hirschsprung's disease include:
Children with Hirschsprung's disease require surgery to remove the abnormal section of the colon. This procedure is often done in two parts, although sometimes this can be done in one operation.
The first procedure separates the healthy colon from the abnormal colon. The healthy colon is brought out through the abdominal wall and connected to a special collection bag. A second procedure removes the affected colon and attaches the healthy colon to the anus.
After surgery, your child initially may experience loose stool. In the long term, constipation is more common. Most children toilet train normally.
Visit the websites below to find support groups and services and learn more about Hirschsprung's disease.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This website from the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition provides information and resources for patients and families living with Hirschsprung's disease.
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.
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