Hirschsprung's Disease

One of the many conditions treated by the Beaumont Children's pediatric surgeons, Hirschsprung's disease occurs when some of the nerve cells that are normally present in the intestine do not form properly while a baby is developing during pregnancy. Hirschsprung's disease occurs in 1 out of every 5,000 live births.

As food is digested, muscles move food forward through the intestines in a movement called peristalsis. When we eat, nerve cells that are present in the wall of the intestines receive signals from the brain telling the intestinal muscles to move food forward.

In children with Hirschsprung's disease, a lack of nerve cells in part of the intestine interrupts the signal from the brain and prevents peristalsis in that segment of the intestine. Because stool cannot move forward normally, the intestine can become partially or completely obstructed (blocked), and begins to expand to a larger than normal size.

The problems a child will experience with Hirschsprung's disease depend on how much of the intestine has normal nerve cells present.

Causes of Hirschsprung's Disease

Between the 4th and the 12th weeks of pregnancy, while the fetus is growing and developing, nerve cells form in the digestive tract, beginning in the mouth and finishing in the anus. For unknown reasons, the nerve cells do not grow past a certain point in the intestine in babies with Hirschsprung's disease.

Symptoms of Hirschsprung's Disease

Most children with Hirschsprung's disease show symptoms in the first few weeks of life. Children who only have a short segment of intestine that lacks normal nerve cells may not show symptoms for several months or years. The following are the most common symptoms of Hirschsprung's disease. However, each person may experience symptoms differently. Symptoms may include:

  • not having a bowel movement in the first 48 hours of life
  • gradual bloating of the abdomen
  • vomiting green or brown fluid

Children who do not have early symptoms may also present the following:

  • constipation that becomes worse with time
  • loss of appetite 
  • delayed growth 
  • passing small, watery, bloody stools 
  • loss of energy

Symptoms of Hirschsprung's disease may resemble other conditions or medical problems. Please consult your child's doctor for a diagnosis.

How is Hirschsprung's disease diagnosed?

A doctor will examine your child and obtain a medical history. Other tests may be done to evaluate whether your child has Hirschsprung's disease. These tests may include:

  • Abdominal X-ray. A diagnostic test which may show a lack of stool in the large intestine or near the anus and dilated segments of the large and small intestine.
  • Barium enema. A procedure performed to examine the large intestine for abnormalities. A fluid called barium (a metallic, chemical, chalky, liquid used to coat the inside of organs so that they will show up on an X-ray) is given into the rectum as an enema. An X-ray of the abdomen shows strictures (narrowed areas), obstructions (blockages), and dilated intestine above the obstruction.
  • Anorectal manometry. A test that measures nerve reflexes which are missing in Hirschsprung's disease.
  • Biopsy of the rectum or large intestine. A test that takes a sample of the cells in the rectum or large intestine and then looks for nerve cells under a microscope.

Treating Hirschsprung's Disease

Specific treatment for Hirschsprung's disease will be determined by your child's doctor based on the following:

  • The extent of the problem
  • Your child's age, overall health, and medical history 
  • Your child's tolerance for specific medications, procedures, or therapies 
  • Expectations for the course of the disorder 
  • The opinion of the health care providers involved in the child's care 
  • Your opinion and preference

An operation is usually necessary to deal with intestinal obstruction caused by Hirschsprung's disease. The surgeon removes the portion of the rectum and intestine that lacks normal nerve cells. When possible, the remaining portion is then connected to the anal opening. This is known as a pull-through procedure. At times, a child may need to have a colostomy done so stool can leave the body. With a colostomy, the upper end of the intestine is brought through an opening in the abdomen known as a stoma. Stool will pass through the opening and then into a collection bag. The colostomy may be temporary or permanent, depending on the amount of intestine that needs to be removed. After a healing period, many children can have the intestine surgically reconnected above to the anal opening and have the colostomy closed.

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