Hirschsprung's Disease in Children

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Hirschsprung's disease occurs when some of your baby’s intestinal nerve cells don’t develop properly, causing them to interfere with the movement of food and stools in the intestines. The intestine becomes blocked with stool, and your baby or child will be constipated (unable to have normal bowel movements). Often, a serious infection (enterocolitis) can occur, which causes a child to have a fever, pain and diarrhea.

Hirschsprung's disease causes 15 to 20 percent of intestinal obstructions that occur in newborns. The obstructions require surgery. Boston Children’s GI Motility Center and Colorectal Program specialize in the treatment and follow-up care of children with Hirschsprung's that have had surgery previously and continue to have problems.

Symptoms of Hirschsprung's Disease

Symptoms vary with age. Of children with Hirschsprung's disease, 80 percent show symptoms in the first six weeks of life. However, children who only have a short segment of intestine that lack normal nerve cells may not show symptoms for several months or years. Their primary symptom is constipation.

Each child may experience symptoms differently, but common symptoms in infants include:

  • Failure to have bowel movement in the first 48 hours of life
  • Constipation
  • Gradual bloating of the abdomen
  • Gradual onset of vomiting
  • Fever

Children who don’t have early symptoms may also have the following symptoms:

  • Constipation that becomes worse with time
  • Loss of appetite
  • Delayed growth
  • Passing small, watery stools

What Causes Hirschsprung's Disease?

Scientists are not sure why the intestinal nerve cells do not form completely. However, genetic factors likely play a role in Hirschsprung's disease, especially when longer lengths of intestine are involved.

  • 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.
  • 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 one with Hirschsprung's disease).

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

Your child may receive one or more of the following tests in order to properly diagnose their condition and confirm whether or not they have Hirschsprung’s:

  • Anorectal manometry: A non-invasive test that measures rectal nerve reflexes, which are the key indicators of this disease. This is the best test to decide who needs to have a biopsy.
  • Abdominal X-ray: This can show signs of obstruction, as well as swollen segments of the large and small intestine.
  • Barium enema: A procedure performed to examine the large intestine for abnormalities. A fluid called barium (a chalky liquid used to coat the inside of the organs so that they will show up on an X-ray) 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.
  • Biopsy of the rectum or large intestine: Your child’s doctor will take a sample of the cells in your child’s rectum or large intestine and look at them under a microscope.
  • Colonic manometry: This test involves placing a catheter (thin plastic tube) into the colon to measure contractions.
  • Colonic transit studies: This procedure uses X-rays to monitor the movement of markers through the intestine and colon.

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

Read more about GI motility testing at Boston Children’s.

Due to advances in minimally invasive surgery, our surgeons frequently perform a single operation to fix intestinal obstruction at the time that Hirschsprung's disease is initially diagnosed. The goal of the surgery is to remove the diseased section of the intestine and to pull the healthy portion of the intestine down to the anus.

In most cases, this surgery can be done with minimally invasive surgical techniques and sometimes entirely through the anus with no scars at all.

Learn more our GI motility treatments and approach at Boston Children’s.

Recovery from Surgery for Hirschsprung’s Disease

It is not uncommon for children that have had Hirschsprung’s disease surgery to continue to have problems after surgery. At Boston Children’s, our specialists are dedicated to evaluating and caring for children who continue to have issues related to this disease.

Problems that may occur after surgery depend on how much unhealthy intestine needed to be removed during surgery and the current functioning of the colon, rectum and anus.

Problems that may occur 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 a large section of intestine removed may also have 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.

Our team will provide a thorough evaluation to locate the problem using one or more advanced diagnostic tests, such as anorectal manometry, a barium enema or a biopsy of the rectum or colon. These tests will provide doctors with a clear picture of how the colon is working after surgery and whether the repair was successful.

Our doctors will then collaborate on a treatment plan that may include:

  • Medications to either slow the transit of the stool in the colon, or to make it faster
  • Injections of Botulinum toxin (Botox) into the anal sphincter to relax this muscle
  • Other rectal interventions or surgical procedures that may include redoing operations your child’s already had
  • Further removal or abnormal intestine
  • Appendicostomy: A surgical procedure to flush out and empty the colon by creating an opening outside the belly

Read more about our GI motility treatments to understand our comprehensive approach for long-term management of these conditions.

Make an Appointment

For an appointment, more information or to obtain a second opinion for your child, please contact the Motility and Functional Gastrointestinal Disorders Center at 617-355-6055 or request an appointment online.

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