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 HOME >> Diseases >> Diseases Index >> Index H >> Hirschsprung's disease
Hirschsprung's disease  

 

 


What is Hirschsprung's disease?

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.

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. Seventy percent of babies with Hirschsprung's disease are missing nerve cells in only the last one to two feet of the large intestine.

Hirschsprung's disease causes 25 percent of intestinal obstructions that occur in newborns.

What causes Hirschsprung's disease?
Between the 5th 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.

Scientists are not sure why the intestinal nerve cells do not form completely. Nothing has been shown to cause this problem, including medications a mother takes while pregnant or what a mother eats during pregnancy.

How often does Hirschsprung's disease occur?
Hirschsprung's disease occurs in 1 out of every 5,000 live births.

Who is at risk for Hirschsprung's disease?
Hirschsprung's disease occurs five times more frequently in males than in females. Children with Down syndrome have a higher risk of having Hirschsprung's disease.

There is possibly a genetic, or inherited, cause for Hirschsprung's disease. If a family has a child with Hirschsprung's disease, there is a 3 to 12 percent chance that another baby they have will also have the disease. Also, there is an increased chance that a couple will have a child with Hirschsprung's disease if one of the parents has the disease. The chances are higher if the mother is the parent with Hirschsprung's disease.

Why is Hirschsprung's disease a concern?
Because a segment of the intestine lacks normal nerve cells, digested food and stool cannot move forward through that portion of the digestive tract. The intestine becomes blocked with stool, and the baby will be constipated, or unable to have normal bowel movements.

The obstruction (blockage) causes pressure on the inside of the intestine, causing part of the intestinal wall to wear thin. Eventually, a bacterial infection can develop in the digestive tract, causing serious problems.

What are the symptoms of Hirschsprung's disease?
Eighty percent of children with Hirschsprung's disease show symptoms in the first 6 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 individual may experience symptoms differently. Symptoms may include:

  • not having a bowel movement in the first 48 hours of life

  •  gradual bloating of the abdomen

  • gradual onset of vomiting

  • fever

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 stools

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

How is Hirschsprung's disease diagnosed?
A physician 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.

Treatment for Hirschsprung's disease:
Specific treatment for Hirschsprung's disease will be determined by your child's physician 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 physicians 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. A colostomy is 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 is needed 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.


Will my child have problems in the future?
Problems in the future often depend on the amount of intestine that lacked nerve cells, and how much intestine was removed. Children who are able to have their colostomy closed may have temporary or intermittent problems, including the following:

  •  Stools may be frequent and loose at first. Cleaning the anal area carefully to remove stool, and applying diaper rash creams or lotions may prevent skin irritation.
     

  • Children may have problems sensing the need to have a bowel movement. Since the urge to have a bowel movement is greater after eating, setting aside 10 minutes after meals to spend on the toilet may help.
     

  • Some children have problems with bowel movements because the anal opening is tight, and this can be helped by a special technique called rectal dilation. Your child's physician can teach you this technique if it is appropriate for your child.

Children who had a large section of intestine removed may have long-term problems. When a large portion of the intestine is removed, the digestive process can be affected. Nutrients and fluids are absorbed from food in the small intestine. Removing a large segment of the intestine can prevent a child from getting adequate nutrients and fluids. Children can have problems with improper digestion, slow growth, and infection.




 


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