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Hirschsprung's disease (HD) is a congenital disease (meaning it is present at birth) whereby the nerves in the intestine are missing, resulting in problems passing stool. 

Scientists aren’t sure why the ganglion cells don’t migrate down to the end of the rectum completely. However, genetic factors may be involved, especially when longer lengths of intestine are involved or when multiple members of the same family also have the same condition.

For instance, there is an increased risk that a couple will have a child with Hirschsprung's disease, if one of the parents has the disease. (The risks are greater if the mother is the one with Hirschsprung's disease). If a family has a child with Hirschsprung's disease, there is a 3 to 12 percent chance that another baby from the same parents will also have the disease.

Hirschsprung's disease occurs five times more frequently in boys than in girls. Children with Down Syndrome have a higher risk as well.

Common symptoms in infants include:

• failure to have a bowel movement in the first 48 hours of life
• abdominal distention (stomach bloating)
• gradual onset of vomiting
• fever
• constipation or failure to pass regular bowel movements

Symptoms vary with age. Eighty percent of children with Hirschsprung's disease have symptoms in the first six weeks of life. However, children who only have a short segment of intestine lacking normal nerve cells may not exhibit symptoms for several months or years. 

 

Children who don’t have early symptoms may experience the following signs of Hirschsprung’s disease as they get older:

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

Your child may need to undergo one or more tests in order to be diagnosed with Hirschsprung’s disease.

Most newborns will have the following tests:

• Abdominal x-ray
• Contrast enema. This procedure allows the doctor to examine the large intestine for abnormalities. A special dye that can be seen on x-rays is given via the rectum as an enema. This provides a clearer x-ray and gives your child’s doctor a better picture of what is going on.
• Rectal biopsy. This provides a sample of the rectum to examine under the microscope confirming the presence or absence of ganglion cells and the presence of hypertrophic nerve trunks (thickened, enlarged bundles of nerve fibers).

There are other tests that, when abnormal, suggest that Hirschsprung's may be present. Your child may then require more testing or a biopsy to confirm or rule out this diagnosis.

Surgeons frequently perform a single operation to repair an intestinal obstruction when Hirschsprung's disease is initially diagnosed. The goal, to remove the diseased section of the intestine and to pull the healthy portion of the intestine down to the anus. This is called a pull-through procedure. In most cases, this surgery can be done with minimally invasive techniques. It can sometimes be performed entirely through the anus, leaving no scars at all. Your surgeon will discuss different surgical techniques with you to determine the best option for your child.

It is not uncommon for children with Hirschsprung's disease to continue to have problems after surgery. 

These problems depend on how much unhealthy intestine needed to be removed during surgery and the current functioning of the colon, rectum, and anus.

Possible problems include:

• intractable constipation
• diarrhea
• stool accidents
• frequent episodes of infections (enterocolitis)
• recurrent hospitalizations
• severe abdominal distention (a very bloated stomach)
• pain
• inability to tolerate food
• vomiting

Children who have had a large section of intestine removed may also experience long-term digestive problems. Removing a large segment of the intestine can prevent a child from getting adequate nutrients and fluids, leading to problems with improper digestion, slow growth, and infection.

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