Pediatric Hirschsprung's Disease

Key Points About Hirschsprung's Disease in Children

• Hirschsprung's disease is a rare birth defect. It affects the nerve cells in the large intestine.
• Children with this disorder are missing nerve cells in all or part of the large intestine.
• Without these nerve cells, stool can’t move forward through the large intestine. This can cause constipation, swelling, pain and infection.
• Most children with Hirschsprung's disease show symptoms in the first few weeks of life.
• Hirschsprung's disease is treated with surgery.

What is Hirschsprung's disease?

Hirschsprung's disease is a rare birth defect. It affects the nerve cells in the large intestine. These nerve cells control the muscles that move food and waste, or stool, through the large intestine. The large intestine is the last part of the digestive tract.

Babies with Hirschsprung's disease are missing nerve cells in all or part of the large intestine. In most cases, only the end parts of the colon are affected. Without these nerve cells, the muscles can’t move food and waste through that part of the large intestine. Stool can’t move forward. It stays in the large intestine.

The intestine can become partly or fully blocked. It begins to grow larger than normal. This can cause constipation, swelling, pain and infection.

What causes Hirschsprung's disease in children?

During pregnancy, a baby’s nerve cells form along the intestines. They begin in the mouth and end in the anus. In babies with Hirschsprung's disease, the nerve cells don’t grow past a certain part of the large intestine. Experts don’t know why this happens.

Which children are at risk for Hirschsprung's disease?

A child is more at risk for Hirschsprung's disease if there is a family history of the disorder. Some genetic syndromes, such as Down syndrome, are also linked with the disorder.

Boys are more likely to have Hirschsprung's disease than girls.

What are the symptoms of Hirschsprung's disease?

Most babies with Hirschsprung's disease have symptoms in the first few weeks of life. In some cases, only a short part of the intestine may be affected. Some children may not show symptoms for up to several months while others become ill very quickly.

Each child’s symptoms may vary. Symptoms in newborns may include:

• Not having a bowel movement in the first 48 hours of life
• Slow swelling or bloating of the belly
• Vomiting green or brown fluid
• Fever
• Diarrhea (enterocolitis)

Children who don’t show early symptoms may also have:

• Constipation that gets worse over time
• Loss of appetite
• Slow or delayed growth
• Small, watery, bloody stools
• Loss of energy

Symptoms in older children include:

• Sepsis
• Severe Constipation
• Loose and watery stools (enterocolitis)
• Loss of appetite
• Delayed growth (failure to thrive)

Symptoms of Hirschsprung's disease may seem like other health problems. See your child's health care provider for a diagnosis.

How is Hirschsprung's disease diagnosed in children?

Your child’s health care provider will do an exam and take a health history. The provider will ask questions about constipation and bowel movements. Other tests may be done to find out if your child has Hirschsprung's disease. These tests may include:

• Abdominal X-ray. This test may show a lack of stool in the large intestine or near the anus. It can also show if part of the large intestine is bulging. The bulging is caused by blocked stool.
• Barium enema. This X-ray exam checks the large intestine for any problems. Your child is given a metallic fluid called barium. Barium coats the organs so they can be seen on an X-ray. The barium is put into a tube and inserted into your child’s rectum as an enema. An X-ray of the belly will show any narrowed areas or any blockages. It will also show if the intestine is bulging above a blockage.
• Anorectal manometry. This test is most often used for older children. A small tube is put into the rectum to check how well the rectal muscles are working. If the muscles don't relax, it may be a sign of Hirschsprung's disease.
• Biopsy of the rectum or large intestine. A tiny piece of the large intestine is removed. It is checked under a microscope to see if any nerve cells are missing.

How is Hirschsprung's disease treated in a child?

Treatment will depend on your child’s symptoms, age and general health. It will also depend on how severe the condition is.

Surgery

Hirschsprung's disease is treated with surgery called a pull-through procedure. A surgeon removes the part of the large intestine that lacks nerve cells. When possible, the healthy part that is left is connected to the anal opening.

In some cases, surgery may be done in two stages. A child who is very sick from Hirschsprung's disease may first need ostomy surgery. This can help the child heal before the pull-through surgery. With ostomy surgery, the diseased part of the large intestine is removed. The end of the healthy intestine is moved to an opening made in the belly. This opening is called a stoma. Stool passes through the stoma and into a bag worn outside the body. The bag must be emptied several times a day.

An ostomy may be short-term or temporary. Or it may be permanent. It depends on how much of the intestine must be removed. If it is short-term, the surgeon will connect the healed intestine to the anus and sew the stoma (opening) closed.

In most cases, the ostomy is temporary. But sometimes children with Hirschsprung's disease must have a permanent ostomy. Infants will feel better after ostomy surgery because they will be able to pass gas and stool easily.

While older children will feel better as well, they must adjust to living with a permanent ostomy. This means learning how to take care of the stoma and how to change the ostomy pouch. Living with an ostomy can be very hard. A special nurse, called an ostomy nurse, can help your child learn how to care for the ostomy. The nurse can also provide emotional support and encouragement.

Colostomy

A colostomy is a surgical procedure that creates an opening for the colon, or large intestine to excrete waste in a small bag located outside of the body. Most babies born with an anorectal malformation will need a temporary colostomy within the first few days of life. The colostomy will ensure the baby can properly pass stool, helps to normalize digestion and greatly reduces the risk of infection.

Ileostomy

If your child has a malformation of the large intestines that interferes with waste existing the body, an ileostomy may be performed. An ileostomy involves connecting a part of the small intestine to a surgical opening in the abdomen that allows feces to move outside of the body into a small pouch. This provides a temporary solution for stool to exit until your child is ready to undergo reconstructive surgery. Once the ileostomy is no longer needed, surgery will be performed to connect the large and small intestine.