What is Hirschsprung disease?
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
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
