The large intestine is lined with muscles that contract to move stool through the intestine. Hirschsprung disease is a birth defect in which part of the colon (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
If only a small part of a child’s large intestine is blocked, the symptoms can be mild and include:
If Hirschsprung disease isn’t treated, a child may get Hirschsprung enterocolitis. This can be life-threatening with symptoms that include:
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:
Doctors treat Hirschsprung disease by:
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: