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Hirschsprung Disease


The Manual's Editorial Staff

Reviewed/Revised Feb 2024
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You have a small intestine and a large intestine. The small intestine is a long coiled tube that connects your stomach to your large intestine. The large intestine (colon) is shorter but wider and leads from the end of the small intestine to the rectum.

What is Hirschsprung disease?

The large intestine is lined with muscles that contract to move stool through it. Hirschsprung disease is a birth defect in which part of the large intestine is missing the nerves that signal the muscles to contract.

  • Stool builds up in the intestine and causes a blockage

  • A child with Hirschsprung disease may throw up, refuse to eat, and have a swollen belly

  • Doctors do surgery to remove the part of the intestine that is missing nerves

  • If not treated, Hirschsprung disease can lead to a fatal infection of the intestines called enterocolitis

What are the symptoms of Hirschsprung disease?

Symptoms include:

  • In newborn babies, not having a bowel movement within the first 24 hours after birth

  • Vomit that is green or brown

  • A swollen belly

  • Refusing to eat

If only a small part of a child’s large intestine is blocked, the symptoms can be mild and include:

  • Thin stool, like a ribbon

  • A swollen belly

  • Not gaining weight

  • Not passing stool

Children with mild symptoms may not be diagnosed until later in childhood or, rarely, as adults.

If Hirschsprung disease isn’t treated, a child may get Hirschsprung enterocolitis. This can be life-threatening with symptoms that include:

  • Sudden fever

  • Swollen belly

  • Explosive diarrhea

How can doctors tell if my baby has Hirschsprung disease?

Doctors may suspect Hirschsprung disease is if a baby doesn't poop in the first 24 hours after birth.

Doctors test for Hirschsprung disease with the following:

  • Barium enema x-ray

  • Rectal biopsy (doctors take out a small piece of the child’s rectum to look at under a microscope)

  • Measuring the pressure inside the child’s rectum

How do doctors treat Hirschsprung disease?

Doctors treat Hirschsprung disease by:

  • Doing surgery to take out the abnormal section of intestine and reconnect the 2 ends of working intestine

Sometimes, if the child is very sick, doctors first do a temporary colostomy. They make a hole in the large intestine and connect it to a hole in the belly. Your baby's poop goes out the hole into a bag until your baby is healthy enough to have another operation. Then doctors do a second surgery to remove the part of the intestine that isn’t working, reattach the working intestine, and seal the opening for the colostomy.

Doctors treat infection (enterocolitis) with:

  • Fluids and antibiotics in the vein

  • Washing stool out of the intestines with salt water given through a tube in the rectum

  • Surgery

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