Hirschsprung disease involves a lack of nerve cells in your baby’s large intestine. Without nerve cells stimulating the muscular intestinal walls, stool (poop) stops moving. This results in constipation and dangerous bowel obstruction. Fortunately surgery corrects this problem.
Children with Hirschsprung disease don’t have nerve cells (called ganglion cells) at the end of their large intestines. These nerve cells control bowel movements. As a result, these children may have severe constipation (trouble having a bowel movement or pooping). Some develop dangerous bowel obstructions (blockages).
Your colon, rectum and anus make up your large intestine. This part of the digestive system helps move waste from your body. Liquid waste travels from your small intestine into your colon, where it turns solid. Solid waste (poop) passes out of your body through your anus.
The nerve cells stimulate the muscles in the walls of the large intestine to move stool along to the anus. Without nerve cells to stimulate intestinal muscles, the stool stops moving.
Hirschsprung disease is a congenital disability or birth defect. It’s present at birth. Approximately 5,000 babies are born with the disease every year. The condition affects three to four times as many males as females.
The two main types of Hirschsprung disease are:
Rarely, nerve cells don’t form in the large intestine and part of the small intestine. Healthcare providers call this condition total colonic aganglionosis. A very small number of children have no nerve cells in the intestines at all. This condition is known as total intestinal aganglionosis.
During fetal development, nerve cells typically grow from the top of the small intestine through the large intestine to the anus. In children with Hirschsprung disease, these nerve cells stop growing in the large intestine before reaching the anus. Doctors aren’t sure why this happens.
About 20% of the time, Hirschsprung disease runs in families. A change in a gene (genetic mutation) may be the cause. A parent with Hirschsprung has a higher risk of having a child with the disease. And if one child in a family has the condition, siblings are more likely to have it, too.
Your healthcare provider may suspect Hirschsprung disease if your newborn doesn’t pass a dark green stool called meconium within 24 to 48 hours after birth.
One sign of Hirschsprung disease is constipation. An infant or child may strain to poop, pass hard stools or poop infrequently. Medications to ease constipation don’t help.
Other symptoms include:
Up to 90% of children develop symptoms and receive a diagnosis during their first year of life. About 10% of the time, a diagnosis comes during childhood. Less than 1% of Hirschsprung disease diagnoses occur during the teen or young adult years.
Your healthcare provider will perform a physical exam to check for a swollen abdomen. A rectal exam checks for stool buildup (impaction).
Your provider may also perform one or more of these tests:
Children with Hirschsprung disease need a procedure known as pull-through surgery. Surgery typically occurs soon after diagnosis. During this procedure, a surgeon:
Children who are very sick or born prematurely (before the 37th week of pregnancy) may need to get stronger before having this procedure. In the meantime, these children may need an ostomy. During this procedure, a surgeon:
Rarely, a surgeon may remove all of the large intestine and attach the small intestine to the stoma (ileostomy). Another procedure leaves part of the large intestine. The surgeon attaches the remaining large intestine to the stoma (colostomy). This procedure is less common.
Up to 40% of children with Hirschsprung disease develop enterocolitis. This condition is inflammation of the small and large intestines. Some children have mild inflammation. Others experience severe symptoms that can be life-threatening. Children with severe enterocolitis have Hirschsprung disease symptoms along with fever and explosive diarrhea.
Severe or untreated Hirschsprung disease may lead to these potentially life-threatening problems:
There isn’t a way to prevent Hirschsprung disease. If you have the disease or a family history of it, you may want to meet with genetic counselors before starting a family.
Most children with Hirschsprung disease gain weight, grow and thrive after surgery to correct the problem. Rarely, a child may need a second (revisional) pull-through surgery.
You should call your healthcare provider if your child experiences:
You may want to ask your healthcare provider:
A note from Cleveland Clinic
It’s scary when your child is diagnosed with a serious medical condition like Hirschsprung disease. Fortunately, surgery often corrects the intestinal issues. After surgery, your child should have normal bowel movements and go on to lead a full life. Because your child feels better and is no longer constipated, you should notice changes like weight gain and growth. In the period before surgery, keep an eye out for signs of complications like an intestinal blockage. Call your healthcare provider immediately if you have any concerns about your child’s health.
Last reviewed by a Cleveland Clinic medical professional on 12/31/2020.
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