What is Hirschsprung's disease?

Hirschsprung's 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.¹

What causes Hirschsprung's disease?

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.¹

Hirschsprung's disease also may occur along with other medical conditions, such as Down syndrome and congenital heart disease.

What are the symptoms?

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.

How is Hirschsprung's disease diagnosed?

A health professional usually first suspects Hirschsprung's disease based on descriptions of your child's symptoms and the results of a physical examination. A rectal biopsy, abdominal X-ray, barium enema, and other tests may be done to confirm diagnosis.

Though Hirschsprung's disease is present from birth (congenital), it may not be diagnosed until months or years later. However, 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.

How is it treated?

Children with Hirschsprung's disease require surgery to remove the portion of the large intestine that has no nerve cells. The surgery is 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.

Many children will not have intestinal problems that last forever. But most have long-term (chronic) problems with stomachaches, constipation, or stool leakage (fecal incontinence). If long-term problems occur, they are usually mild. Depending on the nature of the problem, treatment may include medicine, behavior modification, biofeedback, cognitive behavioral therapy, or more surgery.

Emergency surgery may be needed if a dangerous problem occurs, such as Hirschsprung's-associated enterocolitis (HAEC), an inflammation of the small and large intestines.

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