Hirschsprung's Disease

Hirschsprung's disease is a condition in which nerve cells in the intestines are missing. The normal, carefully coordinated contracting and relaxing of muscles in the intestines is what allows digestion and elimination to happen. This process, called peristalsis, depends on nerve cells in the walls of the intestines.

Usually, the nerve cells are missing only in the lower part of the large intestine - the last one to two feet - in Hirschsprung's disease. This is the section from the rectum upward. But sometimes nerve cells can be missing or abnormal over the entire length of the large intestine.

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Symptoms

Without nerves in the intestinal walls, the bowel cannot move food stuff or waste products. This creates a block in the digestive system.

Most babies with Hirschsprung's disease are diagnosed within six weeks after birth. Most newborns - even premature ones - pass a first stool within 24 to 48 hours after being born. 

The failure to pass a stool paired with a swollen belly and vomiting are signs of possible Hirschsprung's disease.

In some cases, it takes more time to discover a child has Hirschprung's. This is particularly so when only a short section of the intestine lacks nerves. Older children with Hirschsprung's disease may never have a normal bowel movement. They may either have constipation that gets worse over time or pass small watery stools. They may have little or no appetite and be delayed in their growth patterns. Other signs are colitis (infection and inflammation in the colon) or blood poisoning.

 

Causes and Risk Factors

Hirschsprung's disease happens when the nerves to the intestines don't develop properly during the fifth and twelfth weeks of pregnancy. It is not known why this happens. Nothing - neither medications nor diet during pregnancy - has been found to be the cause.

Hirschsprung's disease occurs five times more often in boys than girls. There may be genetic factors involved. If one child in a family has the disease, there is about a 3% to 12% that a future child will have it. If one parent has Hirschsprung's, the chances are greater that a child will be born with it. (The chances are greater still if the parent is the mother). Children with Down's syndrome are more likely to be born with Hirschsprung's disease.

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Diagnosis

The first step in diagnosing Hirschsprung's disease is an examination by a doctor. Signs of Hirschsprung's disease may be like those of other medical problems. Please consult your child's physician for a diagnosis. These other conditions must be ruled out before treatment is started.

The doctor may order an X-ray of the baby's belly. This may show a lack of stool in the large intestine or swollen sections of the large and small intestines. Sometimes this is done with a contrast enema to make it easier to see abnormalities on the X-ray. Sometimes, anorectal manometry is done. This is a test to measure the pressure inside the rectum.

The only way to be certain if a child has Hirschsprung's disease is to examine a tiny sample of the lining of the bowel under a microscope. This is called a biopsy. In a newborn, this can be done using suction at the bedside in the nursery. For older children, it may be necessary to take the sample during surgery under anesthesia.

A doctor with special training in cell biology - a pathologist - will look at the tissue. He or she will see if there are nerve cells in the tissue.

The tissue is examined by the pathologist who determines whether nerve cells are present or absent.

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Treatments

The goal of treatment is to remove or bypass the segment of intestine that is missing nerves and replace it with normal bowel. This can be done in several ways:

  • A minimally invasive approach. This may be used on stable newborns. It needs only three small incisions. The procedure is done using an endoscope. This allows the surgeon to view the procedure on a television monitor.
  • Open or traditional surgery. This is done when minimally invasive surgery isn't possible. This procedure uses a large incision to bring a piece of the bowel to the surface of the skin to remove the block. When the baby has recovered, the minimally invasive approach can be used to eliminate the piece of bowel without nerves. In some cases a colostomy may be done at the same time. This brings a portion of the bowel to the surface of the skin so that wastes can be eliminated. This is called a colostomy. It protects the area where the bowel was removed until it has healed. The colostomy may be closed in four to six weeks.

While most patients do well after this type of surgery, sometimes there are complications. These include:

  • A need for additional surgery because of scarring or other complications of surgery
  • Constipation or not being able to control the elimination of stool (anal incontinence) that requires treatment with stool softeners, enemas or other approaches. There is a greater chance of this in patients with Down syndrome or other nerve issues.
  • Infections in the intestines