Hirschsprung's Disease is a birth defect that affects about l out of 5,000 newborn babies. Babies with this birth defect are born without special intestinal nerve cells called ganglion cells. These nerve cells allow the intestine to relax so stool (poop) can pass through the intestine and out of the body. Without these special nerve cells the intestine cannot relax and it becomes very narrow. When the intestine is narrowed stool cannot easily pass. As a result, babies with Hirschsprung's Disease cannot have bowel movements on their own and have severe constipation.
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.
- How is Hirschsprung's Disease diagnosed?
- How is Hirschsprung's Disease treated?
- How long will my child be in the hospital?
How is Hirschsprung's Disease diagnosed?
Most babies have a bowel movement in the first 1 to 2 days after birth. Hirschsprung's Disease is usually suspected when a baby does not have a bowel movement for several days following birth. Babies with Hirschsprung's disease often have a large, swollen appearing abdomen and may vomit green bile after feeding.
There are two tests commonly used to make the diagnosis of Hirschsprung's Disease. The first is a contrast enema. During this test a special liquid (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 (dilated) area followed by a narrow segment 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 cannot be passed.
The second study is a rectal biopsy where tiny samples are taken from 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, the diagnosis of Hirschsprung's Disease is made. If these initial biopsy samples are not helpful the surgeon may need to take an additional biopsy sample in the operating room under anesthesia.
While most babies are diagnosed very soon after birth, some children may not be found to have Hirschsprung's disease until much later in life. These children often have severe constipation, diarrhea, slow weight gain. If the diagnosis of Hirschsprung's is suspected when your child is no longer and infant the surgeon will take a biopsy in the operating room.
How is Hirschsprung's Disease treated?
The part of the intestine without ganglion cells must be removed with an operation. Usually this can be done in one operation (primary repair). In most babies we operate without making an incision (surgical cut) on the abdomen. The operation is done with telescopic (laparoscopic) instruments 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 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 pouch 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.
In most Hirschsprung's operations, there is very little blood loss. You child will receive blood only in the rare case of an extreme emergency. If you wish to provide a directed donation of blood, contact our office, 1-2 weeks in advance of the operation.
After the operation, if your child does not have a stoma, he or she will have very frequent loose stools. It will be important to protect the skin around the anus at all times. Your child's nurse will teach you how to mix and apply a cream called "butt balm". Use this cream at all times to protect the skin from the irritating effects of diarrhea. The recipe for butt balm is: a four ounce tube of Desitin® ointment, a one ounce bottle of Stomahesive® powder and a 1/2 ounce bottle of Mycostatin® powder combined to create a cream the consistency of peanut butter. The surgical nurse will order the prescription for the powder. Please give us the phone number of your pharmacy once you go home. Ilex cream can also be used to protect the skin against irritation from diarrhea. It can be ordered from your pharmacy and doesn't need a prescription.
How long will my child be in the hospital?
If your baby has anal surgery without a stoma, 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 by mouth. The surgical nurse specialist and your bedside nurse will ensure you are comfortable and able to care for you child's stoma before discharge.
What is enterocolitis?
Enterocolitis is an inflammation of the intestine which can occur in children with Hirschsprung's even after their operation. Signs of enterocolitis are diarrhea, abdominal swelling, fever, vomiting and lethargy. This disorder can be serious and requires hospital admission, antibiotics and colon irrigation.