Hirschsprung's Disease - FAQs

Hirschsprung's disease occurs when a baby is born without special nerve cells in the intestine called ganglion cells. Ganglion 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 cannot relax and babies cannot have normal bowel movements. This leads to severe constipation.

Most children with Hirschsprung's disease develop symptoms within the first six weeks of life. The most common symptoms include:

• Not having a bowel movement within the first twenty-four to forty-eight hours after birth.
• Throwing up green liquid (bile) after eating.
• Swelling and/or fullness of the abdomen.

Children who do not develop the early symptoms described above may present with these symptoms:

• Worsening constipation
• Small, watery bowel movements
• Loss of appetite
• Delayed growth

How is Hirschsprung's disease diagnosed?

The health care provider will do one or more of the following tests:

• Barium enema: a special liquid is inserted through a small tube placed in the rectum and x-rays are taken. The pictures will show a wide or narrowed segment of the intestine.
• Biopsy: a small piece of the intestine is removed and observed under the microscope for the absence of ganglion cells.
• Manometry: a small balloon is inserted into the rectum and measures the nerve reflexes that are missing in Hirschsprung's disease.

What is the treatment?

Hirschsprung's disease is treated with surgery. The portion of the intestine that does not have ganglion cells is removed and the areas that are healthy are connected. This is called a primary repair or a "pull-through."

Some babies or children will require more than one operation called a staged repair. In the first stage, the part of intestine without ganglion cells is removed and a colostomy is made.

A colostomy allows for the intestine to be brought to the surface of the abdomen allowing for the emptying of stool outside of the body. Stool will drain into a collection bag placed around the ostomy. Several months later, the colostomy is closed and the healthy portions of the intestine are reconnected.

What special skin care is needed?

After the pull-through surgery, the first bowel movements can cause the baby's diaper area to get very sore. This is expected but we must prepare for it. Stool must be removed as soon as possible. Skin is cared for by frequent warm soaks in a tub. Patting dry and applying a barrier to the skin to prevent contact from the stool and to help the skin heal.

There are many barriers available. The nurse practitioners will provide prescriptions for some. Desitin mixed with Karaya is a cheap one to always keep on hand.

What is anal dilation?

Surgical healing and scarring occur after any cutting of tissue. The scarring in the intestine is particularly important because it can cause stricture or tightening of the passage.

As a precaution and to prevent scarring, the surgeon will begin to dilate the passage with a series of dilators. This is important work after surgery. We will teach you how to perform the daily dilatations. It is similar to taking the baby's temperature.

The dilators are small tubular instruments which come in advancing sizes to gradually stretch the anal canal to a normal size.

This procedure is not begun until 2-3 weeks after the operation and the first dilatation is done by the surgeon. After that, he/she will decide when to begin at home and we will teach you.

When do I come back to the office?

You will have frequent follow-up appointments with the surgeon who performed the operation. The first appointment is usually made two weeks after your child is discharged from the hospital. Then we will examine the baby and advance the size of the dilator at each visit.

When do I call the office?

Call 410-328-5730 for any questions or if there is:

• Fever of 101 degrees or higher
• Vomiting
• The incision is red
• If there is bleeding or excessive drainage from the incision
• There are no bowel movements for more than two days
• Worsening diaper rash
• Any questions or concerns about the colostomy, dilators, or diaper rash

What are potential long-term issues?

Enterocolitis is an infection within the intestine. It occurs occasionally in children with Hirschsprung's disease. It is very serious, requiring emergency hospitalization for IV antibiotics and intestinal irrigations.

How should I handle bowel management?

It is important to remember that surgery for Hirschsprung's disease is not a cure for the disease. Children continue to have difficulty with stool retention and constipation. This is especially true during toilet training when stool withholding is normal for all preschool children. Toilet learning itself can be somewhat delayed.

In children with Hirschsprung's disease, bowel management to achieve social continence may be indicated. Call the office and schedule an appointment with one of the nurse practitioners for constipation questions or worries about toilet learning.