Hirschsprung's Disease: Causes, Symptoms, Diagnosis and Treatment

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).

Hirschsprung disease

What is the large intestine?

The colon and rectum form the large intestine. This part of the digestive system helps move waste from the body. Liquid waste travels from the small intestine into the large intestine, where it turns solid. Solid waste (poop) passes out of the body through the anus.

How do nerve cells control bowel movements?

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.

How common is Hirschsprung disease?

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.

Who might get Hirschsprung disease?

Children with congenital heart defects and Down syndrome are most at risk. Hirschsprung disease affects 1 in 100 children with Down syndrome.

What are the types of Hirschsprung disease?

The two main types of Hirschsprung disease are:

Short-segment: This type is the most common. It affects 80% of people (mostly males) with the disease. Nerve cells don’t form in the last segment of the large intestine.
Long-segment: This type affects males and females equally. It occurs when nerve cells are missing from the large intestine.

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.

What causes Hirschsprung disease?

As a baby develops in the womb, 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.

What are the symptoms of Hirschsprung disease?

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:

Abdominal pain and swelling.
Brown or green vomit.
Diarrhea that’s often bloody.
Lack of appetite (refusing to eat) and poor weight gain.
Slow growth.

How is Hirschsprung disease diagnosed?

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:

Biopsy: During a rectal biopsy, your provider removes a small piece of rectal tissue. Your provider examines the tissue under a microscope to check for nerve cells. In infants, providers use a suction device to remove the tissue. This procedure isn’t painful and doesn’t require anesthesia.
X-ray: Abdominal X-rays can show a bowel blockage.
Anorectal manometry: An anorectal manometry uses external pressure sensors and an internal balloon device. It gauges how well your child’s rectum and anus get rid of poop. Your child may be sedated during this test.
Barium enema X-ray: While your child is under sedation, a provider inserts a catheter (thin tube) into your child’s anus. The catheter fills the intestine with barium, a safe, white liquid. A technician takes X-rays as the barium travels through the intestine. A barium enema X-ray is a type of lower gastrointestinal (GI) exam. It shows bowel obstructions and narrowed intestines.

How is Hirschsprung disease managed or treated?

Children with Hirschsprung disease need a procedure known as pull-through surgery. Surgery typically occurs soon after diagnosis. During this procedure, a surgeon:

Removes the nonfunctioning part of the large intestine.
Connects the remaining healthy part of the large intestine to the anus.

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:

Removes the nonfunctioning part of the large intestine.
Creates a small hole (stoma) in the child’s stomach.
Connects the top part of the healthy intestine to the stoma.
Creates a connection where an ostomy bag on the outside of the body collects poop.
Closes the stoma later on, when it’s time for the pull-through surgery.

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.

What are the complications of Hirschsprung disease?

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:

Large bowel obstruction: A large bowel obstruction stops food from passing through the intestine. The obstruction also cuts off blood flow, causing part of the intestine to die. As pressure builds up, bacteria leak from the intestine into the bloodstream. A deadly condition called sepsis may occur.
Toxic megacolon: This rare, life-threatening condition causes the colon to widen and expand. Gas and poop can’t move through the swollen intestine. If they build up, the intestine may rupture.

How can I prevent Hirschsprung disease?

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.

What is the prognosis (outlook) for people who have Hirschsprung disease?

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.