What is Hirchsprung disease?

Hirschsprung disease is a condition in which the walls of one portion of the large intestine are missing nerve cells, or ganglion cells. These cells are important because when we eat, they receive signals from the brain to push the food forward. The signals create a wave-like motion in the intestine wall that moves stool (waste) toward the rectum. When the nerve cells are missing, the signal stops and stool cannot move forward. This creates a blockage, or obstruction. 

Who gets it?

Hirschsprung disease is a congenital disease, meaning it is present at birth. It affects boys more often than girls, and children with Down syndrome have a greater chance of having Hirschsprung’s. There is likely a genetic cause, as well. If a family has a child with Hirschsprung disease, there is an increased chance that another sibling will also have the disease. The risk is also higher if a parent has the disease. 

Will my child need surgery?

Most children with Hirschsprung disease will show symptoms in the first days or weeks of life. The symptoms of Hirschsprung disease can sometimes look like other conditions, so it is very important to have an evaluation by a pediatric surgeon and your child’s doctor. Symptoms include:

  • No bowel movement in the first 48 hours after birth
  • Bloating of the belly
  • Vomiting green fluid
  • Fever
  • Poor growth

There are other tests that will need to be done to determine if your child has the disease. A contrast enema and abdominal x-rays help the pediatric surgeon examine the intestine for abnormalities such as narrowed areas, obstructions, or dilated areas. A rectal biopsy involves removing a tiny piece of the rectal tissue and examining it under a microscope. This will help the pediatric surgeon identify whether nerve cells are present.  

If the tests show that nerve cells are missing in the bowel, surgery is needed. During the operation, the section of the bowel that is abnormal will be removed. Then, the normal bowel will either be attached to the anus, or the surgeon may decide you child needs a stoma. A stoma, or ostomy, is where a small section of bowel is brought up to an opening created in the skin. Stool and gas can come out of the opening into a bag.  The decision to create an ostomy depends on the amount of bowel that is abnormal. Often, the section of bowel is later reconnected to the rest of the intestine and the opening in the skin is closed in a second surgery. This happens weeks to months after the original surgery, once the child has had a chance to grow and heal.

What else do I need to know

It is very important to call the pediatric surgery team if your child has explosive, watery diarrhea with or without a fever. Children with Hirschsprung disease are always at risk of developing Hirschsprung-related enterocolitis (HRE). It is a severe inflammation of the bowel that can be very serious if left untreated.

Your child’s evaluation

If you or your child’s doctor believe your child may have Hirschsprung disease, we will schedule an appointment at University of Iowa Stead Family Children’s Hospital in Iowa City or one of our clinics in the Quad Cities or Waterloo. During this appointment, you and your child will meet with one of our surgeons and pediatric surgery team members, and you will be counseled on treatment options, the possibility of surgery, perioperative care, and follow-up treatment.

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