Hirschsprung disease in children

We know parents want their children to be as healthy as possible. One major health concern for many parents is constipation. If your child is unable to pass stool regularly, they might be afflicted with a syndrome known as Hirschsprung’s disease. The good news is that most children with constipation do not have Hirschsprung’s, because it is a congenital disorder — meaning children who have it are born with it.  While it is a rare disorder, occurring in approximately 1 in every 5,000 births, treatment is essential.  We encourage all parents with children troubled by constipation to seek proper diagnosis.

What is Hirschsprung’s?

Hirschsprung’s (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby’s colon. Only a small minority of children with constipation actually have Hirschsprung’s.

Healthy intestines squeeze with a wave-like motion to move stool along the digestive tract. Special nerve cells (ganglion cells) help the intestines make this motion. In children with Hirschsprung disease, these nerve cells are missing. Most often, ganglion cells are missing from the end of the large intestine (colon) or the rectum, where stool collects before leaving the body through the anus. In very rare cases, ganglion cells may be missing from part of the small intestine too.

What are the symptoms?

Where ganglion cells are missing, the intestine squeezes shut, and stool stops moving. Your child can have ongoing constipation, or their intestines can get blocked completely (obstructed). Hirschsprung’s disease increases your child’s risk for an infection in the colon called enterocolitis. The infection can be very serious. Enterocolitis can be treated, but it can threaten your child’s life if it is not treated the right way.

Testing for Hirschsprung’s

If your child has symptoms of Hirschsprung’s disease, the doctor will take X-rays to see what the intestines look like. Your child may need:

  • A regular X-ray
  • A contrast enema.

Doctors may need to take a small sample of tissue from the rectum to confirm if your child has Hirschsprung disease. This is called a rectal biopsy. They look at the tissue sample under a microscope to see if it has ganglion cells. Sometimes doctors also use a test called anorectal manometry. During this test, the doctor inflates a small balloon inside the rectum that senses how well the nerves and muscles work.

The treatment plan

Care for Hirschsprung disease requires expertise to diagnose the condition, perform delicate surgery and keep your child healthy for life. Each child’s case is unique. Our pediatric team will partner closely with you to develop the best treatment plan for your child. To request an appointment, call the Patient Referral Center at 916-453-2191.

For more information, click here.



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Make an Appointment

Please call our Referral Center to schedule an appointment, call (916) 453-2191 or via email at ncal.info@shrinenet.org. A Referral Coordinator will partner with you to gather the necessary information to allow our physician leadership to evaluate the best path for your child.
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