Hirschprung's Disease

Signs and Symptoms

Hirschsprung's Disease is a birth defect that affects about one out of 5,000 newborns. Babies with this birth defect are born without intestinal nerve cells called ganglion cells. These nerve cells allow the intestine to relax so stool can pass through the intestine and out of the body. Without these special nerve cells, the intestine can't relax and it becomes very narrow.

In most babies with Hirschsprung's Disease, only a small part of the large intestine (near the rectum) is missing ganglion cells. In some babies, all of the large intestine is missing ganglion cells. Very rarely, babies can be born without ganglion cells in both the large and small intestine.

When the intestine is narrowed, stool can't easily pass. As a result, babies with Hirschsprung's Disease can't have bowel movements on their own and have severe constipation.

Most babies have a bowel movement in the first one to two days after birth. Hirschsprung's Disease is usually suspected when a baby doesn't have a bowel movement for several days following birth. Babies with Hirschsprung's Disease often have large, swollen abdomens and may vomit green bile after feeding.

Diagnosis

There are two tests commonly used to diagnose Hirschprung's Disease. The first is a contrast enema. During this test a special liquid, called contrast, fills the large intestine through a small tube placed in the anus (enema). X-ray pictures are taken as the liquid enters the intestine. If Hirschsprung's Disease is present, the pictures of the intestine 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 of the intestine is healthy bowel filled with stool that can't be passed.

The second study is done by taking biopsy samples of the inside of the large intestine, near the anus. The pediatric surgeon removes two to three tiny pieces of intestine using a narrow suction tube placed into the anus. This procedure is not painful. Biopsy samples of intestine are examined under a microscope for the ganglion cells. If ganglion cells are seen in the biopsy samples, the intestine is normal and there is no Hirschsprung's Disease. If no ganglion cells are seen on the biopsy samples, Hirschsprung's Disease is diagnosed. While most babies are diagnosed soon after birth, some children may not be 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."

Treatment

The part of the intestine without ganglion cells must be surgically removed.

Usually this can be done in one operation. This primary operation is called the "POOP" procedure for Perineal One Stage Operation Pull Through Procedure. The POOP procedure can be done without making an incision on the abdomen. Instead, small laparoscopic (telescopic) instruments are used and the operation is done through the anus.

In some babies, more than one operation may be required. This is called a staged repair. In the first operation or 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. If your child has a stoma, stool will drain 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 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 by mouth.

Babies that have the POOP procedure, or that have a stoma closure, will have frequent bowel movements that can cause severe diaper rash. A protective cream must be used as soon as bowel movements begin.