What is Hirschsprung’s disease?

Hirschsprung's disease (also called colonic aganglionosis) is a blockage of the large intestine due to improper muscle movement in the bowel. It is a congenital condition, which means it is present from birth.

Causes

In Hirschsprung's disease, certain types of nerve cells (called ganglion cells) are missing from a part of the bowel. In areas without such nerves, the muscle within the bowel wall does not contract to push material through, which causes a blockage. Intestinal contents build up behind the blockage, swelling the bowel and abdomen.

Hirschsprung's disease causes about 25 percent of all newborn intestinal blockages, but is also identified in older babies and children. It occurs five times more often in males than in females. Hirschsprung's disease is sometimes associated with other inherited or congenital conditions, such as Down syndrome.

Symptoms

Infants:

• Difficulty or straining with bowel movements

• Failure to pass meconium (stool) shortly after birth (within 24 to 48 hours)

• Infrequent but explosive stools

• Jaundice

• Poor feeding

• Poor weight gain

• Vomiting

• Watery diarrhea (in the newborn) 

Older children:

• Constipation that gradually gets worse (patients may need to take laxatives regularly)

• Fecal impaction

• Malnutrition

• Slow growth

Hirschsprung’s Disease Q&A with Isam Nasr

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Diagnosis

Milder cases may not be diagnosed until a later age. During a physical examination, the doctor 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:

• Abdominal X-ray

• Barium enema: an X-ray that shows the shape of the rectum and colon

• Anal manometry: measurement of pressure within the rectum using an inflatable balloon

• Rectal biopsy: A suction tube is used to collect tissue from the inside of the rectum. This tissue can then be examined under a microscope to determine if ganglion cells are present. Although biopsy results can sometimes be inconclusive, this is usually the best test to determine if a child with symptoms has the disease.

Treatment

Before the operation, a procedure called serial rectal irrigation helps relieve pressure in (decompress) the bowel. The abnormal sections of colon and rectum must be removed with surgery to permit the child to pass stools easily. The healthy part of the colon is then moved into the child’s pelvis and attached to the anus.

Sometimes this can be done in one operation, but it is often done in two parts (also called a “staged procedure”). If performed in one operation, the surgeon will connect the colon to the anus immediately after removing the abnormal colon and rectum. If performed as a staged procedure, first step is to remove the diseased colon and rectum, followed by a colostomy. When a colostomy is performed, the cut edge of the large intestine is brought to an opening that is made through the wall of the abdomen. This allows bowel contents to empty into a bag. Later, when the child’s weight, age and condition have improved, a pull-through procedure is performed, which removes the colostomy and connects the large intestine to the anus to permit the child to pass normal bowel movements. 

Recovery

Symptoms improve or go away in most children after surgery. A small number of children may have constipation or problems controlling stools (fecal incontinence). In general, children who are treated early and those with limited disease (which allows the surgeon to leave more healthy bowel in place) have better outcomes.