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Hirschsprung's Disease

Posted by Catrina Johnson

Hirschsprungs Disease (congenital aganglionic megacolon) is a birth defect in which nerve cells in the wall of the large intestine do not develop. These nerve cells, called ganglion cells, control the muscles in that area that normally push food and digestive waste through the large intestine. In Hirschsprung's disease, the muscles in the wall of the large intestine do not relax, which prevents waste from moving through the large intestine. This may lead to trapped stool, infection, inflammation, and constipation.

Hirschsprung's disease is diagnosed soon after birth in about 1 of every 5,000 newborns. It is more common in males than females.

The cause of Hirschsprung's disease is not known, but the disease tends to run in families (inherited). The incidence of the disease in relatives of those who have it is higher than in the general population.

General symptoms of Hirschsprung's disease include a swollen abdomen and constipation. The newborn with Hirschsprung's disease may not pass the first stool (meconium) until at least 48 hours after birth. Other symptoms vary depending on the child's age, when the symptoms are recognized, the amount of intestine affected, and the presence of complications. These symptoms may include vomiting, having a poor appetite and refusing to eat, and not growing or gaining weight as expected.

Though Hirschsprung's disease is present from birth (congenital), it may not be diagnosed until months or years later. But most children born with this disease are diagnosed within the first year of life.

In rare cases, an undiagnosed or untreated case can become life-threatening.


Children with Hirschsprung's disease need surgery to remove the portion of the large intestine that has no nerve cells. The surgery may be done soon after the diagnosis is made, often within the first days or month of life. After the surgery, the child may have recurrent constipation or leakage of stool from the rectum. Sometimes these complications require further treatment.


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