Pediatric 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.

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

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.

Recognizing Hirschsprung's Disease Symptoms

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

In Newborns

Infants with Hirschsprung's disease often display early symptoms, but these may not always be obvious. Some children have the disorder and only show symptoms later on, around toddler age.

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 (a sign of enterocolitis)

 In Babies

Babies 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

In Toddlers

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. If you notice your child having trouble with bowel movements for any reason, contact your pediatrician. Delaying could lead to a serious condition called enterocolitis. 

Enterocolitis Requires Immediate Treatment

Because of the lack of normal nerve cells in the intestine, digested food and stool can’t move forward through that part of the digestive tract. The large intestine becomes blocked with stool. Your child will be constipated or unable to have normal bowel movements. Bacteria are allowed to grow in this area of the bowel that is not moving, and this can lead to a severe infection called Hirschsprung associated enterocolitis.

Symptoms of enterocolitis include:

• Fever
• Swollen belly
• Belly pain
• Vomiting
• Diarrhea
• Bleeding from the rectum
• Lack of energy

Call your child’s healthcare provider right away if your child has any signs of enterocolitis. It's important to note that enterocolitis may occur before or after surgery for Hirschsprung's disease.

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.

In most cases, only the end parts of the colon (large intestine) are affected. Without these nerve cells, the muscles can’t move food and waste through that part of the large intestine. When it can't move forward, stool stays in the large intestine, causing constipation.

Diagnosing Hirschsprung's disease can be difficult because its symptoms are similar to other conditions, such as irritable bowel syndrome and allergy to the protein in milk. However, delays in diagnosis and treatment can lead to complications like enterocolitis.

Your child’s healthcare provider will do an exam and take a health history. They 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.
• Contrast enema. This X-ray exam checks the large intestine for any problems. Your child is given a contrast fluid which coats the colon which can then be seen on an X-ray. The contrast material 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.

The results of these tests will help your child's pediatric team make a diagnosis. They will talk with you about the best way to treat your child's Hirschsprung's disease.