Hirschsprung's disease (HD) causes blockage of the large intestine due to abnormal nerves 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.

Causes

Muscle contractions in the 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 such 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, the newborn may fail to pass meconium 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 decreased growth.

Symptoms

• Constipation
• Failure to pass meconium shortly after birth
• Failure to pass a first stool within 24 - 48 hours after birth
• Malabsorption (body doesn't absorb nutrients)
• Poor weight gain
• Slow growth (child 0-5 years)
• Swollen belly
• Vomiting

Exams and Tests

During a physical examination, your child's pediatric GI specialist may be able to feel loops of bowel in the swollen belly. A rectal examination may reveal a loss of muscle tone in the rectal muscles.

Tests used to help diagnose Hirschsprung's disease may include:

Contrast Barium X-Ray

This test is usually done in newborns. The pediatric gastroenterologist will insert barium liquid through the anus into the colon. The contrast will help the doctor see on x-ray which part of the colon is affected.

Anorectal Manometry

For older children, the pediatric gastroenterologist will inflate a small balloon inside the child's rectum to measure pressure of the anal muscles. The child will be asked to squeeze and push.

Rectal Biopsy

A biopsy (tissue sample) will be needed to make a definite diagnosis. The pediatric GI specialist will take a tissue sample from the rectum and look under the microscope to see if ganglion cells are present.

Treatment

The abnormal section of colon must be surgically removed. Sometimes this can be done in one operation, but is frequently done in two parts. The first operation separates the healthy colon from the abnormal colon and the healthy colon is brought out through the abdominal wall and connected to a special collection bag. Later, the affected colon is removed and the healthy colon is attached to the anus. After surgery your child may experience loose stool initially, but over the long term constipation is more common. Most children toilet train normally.

Points to Remember

• Hirschsprung's disease is a condition from birth in which a person lacks ganglion nerve cells, usually in the colon, and is unable to push out stool in a normal manner.
• The disease is often diagnosed in babies. In most cases surgical treatment is effective and children develop normally.
• Children with milder cases might not be diagnosed until later in life. Symptoms include constipation and decreased growth.

For More Information

North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition - NASPGHAN.org

Children's Digestive Health & Nutrition Foundation - cdhnf.org