Hirschsprung's Disease

Normally, babies have a bowel movement in the first one to two days after birth. Hirschsprung's disease is usually suspected if a newborn doesn't have a bowel movement within the first two days after birth. Babies with Hirschsprung's disease may have swollen abdomens and may vomit green bile after feeding.

While most babies are diagnosed soon after birth, some children are not diagnosed until later in life. These children often have severe constipation, diarrhea, slow weight gain or a life-threatening infection of the bowel called enterocolitis.

There are two tests commonly used to diagnose Hirschprung's disease:

• Contrast Enema — During this first test a special liquid, called contrast, fills the large intestine through a small tube placed in the anus. X-ray images are taken as the liquid enters the intestine. If Hirschsprung's disease is present, the pictures will show a wide or dilated area next to a narrow area of intestine. The narrow area is the part of the bowel without ganglion cells. The wide area is healthy bowel filled with stool that can't be passed.
• Biopsy — In the second study, a pediatric surgeon takes two to three tiny tissue samples of the large intestine, near the anus, using a narrow suction tube placed into the anus. This procedure is not painful. Biopsy samples are examined under a microscope for the ganglion cells. If ganglion cells are seen in the tissue samples, the intestine is normal and there is no Hirschsprung's disease. If no ganglion cells are seen, Hirschsprung's disease is diagnosed.

While most babies are diagnosed soon after birth, some children are not diagnosed until later in life.

To treat this condition, the part of the intestine without ganglion cells must be surgically removed.

Usually, this can be done in one operation. This operation is called the POOP procedure, for "perineal one-stage operation pull-through." This procedure can be performed without an incision on the abdomen. Small laparoscopic or telescopic instruments are used and the operation is done through the anus.

Some babies may require more than one operation. This is called a staged repair.

In the first stage, the part of the intestine without ganglion cells is removed and a temporary stoma is made. A stoma is an opening on the abdomen where the intestine is brought out to the skin. Stool drains through the opening into a bag worn on the outside of the body. Several months later, the stoma is closed and the intestine is sewn together. Your child's pediatric surgeon will talk to you about the best operation for your child.

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