Hirschsprung's Disease

Overview

Hirschsprung's disease is a birth defect that causes a blockage or narrowing of the intestines. Babies with this condition are born without intestinal nerve cells called ganglion cells, which allow the intestine to relax and contract so stool can pass through and out of the body. Without these nerve cells, the intestine narrows.

In most babies with Hirschsprung's disease, ganglion cells are missing from only a small part of the large intestine or colon, near the rectum. In some babies, ganglion cells are missing from throughout the large intestine. Rarely, babies are born without ganglion cells in both the large and small intestine.

When the intestine narrows, stool can't easily pass and babies are unable to have bowel movements on their own, resulting in severe constipation. Treatment involves removing the part of the intestine without ganglion cells. Hirschsprung's disease affects about 1 out of 5,000 newborn babies.

Signs & symptoms

Newborns typically have a bowel movement within one to two days after birth. Hirschsprung's disease is usually suspected if a bowel movement doesn't occur within this period.

Other signs of Hirschsprung's disease are swollen abdomens and vomiting 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.

Diagnosis

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.

Treatment

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.

If your baby has the POOP procedure, he or she will go home in one to three days. If your baby has a stoma, he or she may stay in the hospital longer. Your baby will be ready to go home when he or she is having bowel movements, eating and drinking without vomiting and is comfortable on pain medication taken orally.

If your child has a stoma, you will be taught how to care for the stoma before going home. We will order the supplies you will need.

Babies that have the POOP procedure, or who have a stoma closure, will have frequent bowel movements that can cause severe diaper rash. Once bowel movements begin, it is important to protect the skin around the anus at all times. Your child's nurse will instruct you how to mix and apply a special balm.

See more information in Hirschsprung's Disease: Post-Surgery Care and Stoma Care for Children and Their Families.