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Title: Hirschsprung disease

What is Hirschsprung disease? — Hirschsprung disease (also called “HD”) is a condition that stops or slows the movement of food and waste through the bowels (figure 1). Children who have HD cannot have normal bowel movements or have fewer bowel movements than normal. This causes the waste from their body to build up in the bowels. HD can cause a swollen belly, vomiting, and other symptoms.

In a healthy person, the muscles that surround the bowels squeeze and relax. This pushes food and waste through the bowels and eventually leads to a bowel movement. In people with HD, part of the bowel does not work the way it should. It cannot relax to let things move along. This causes food and waste to get stuck.

People who have HD were born with it. Doctors usually find it soon after a baby is born. Sometimes doctors do not find it until the child is older. This can happen when HD causes only mild symptoms. A few people do not find out they have HD until they are adults. People with Down syndrome are more likely to have HD than other people.

HD can cause inflammation in the bowel that can be very serious. It can even cause death if it is not treated.

What are the symptoms of Hirschsprung disease? — In newborn babies, symptoms of HD can include:

●Vomiting
●Belly swelling
●Not being able to have a bowel movement – By the time they are 2 days old, most babies have at least one bowel movement. If a baby does not have a bowel movement by then, he or she might have HD.
Some people with HD have mild symptoms. These can include:

●Constipation (trouble having a bowel movement, painful bowel movements, or very few bowel movements) – Constipation that is caused by HD might happen often and last a long time.
●Belly swelling
●Gaining less weight or growing less than normal, if still a baby or child
HD can cause bowel inflammation. This can be life threatening. It can happen before the doctor finds out a baby has HD. It can also happen after the baby has surgery to fix the HD.

Symptoms of bowel inflammation can include:

●Fever
●Vomiting
●Diarrhea that is very smelly – The diarrhea might have blood in it.
●Belly pain, swelling, or both
●Having low energy, or less interest in things than usual
Should I see a doctor or nurse? — See a doctor or nurse right away if your child has symptoms of bowel inflammation.

Are there tests for Hirschsprung disease? — Yes. There are several tests doctors can do, but they might not all be needed. The doctor will do an exam and then decide if tests are needed.

Tests for HD can include:

●Rectal biopsy – In this test, a doctor takes a small sample of tissue from inside the rectum (the part of the bowel right inside the body). Another doctor looks at it under a microscope to check for HD.
●Belly X-ray
●Barium enema – In this test, a doctor squirts a fluid that shows up on an X-ray into the rectum. Then, he or she does an X-ray to look for HD.
●Manometry – This test measures the pressure at different places inside the rectum. It can tell the doctor if the muscles and nerves that control bowel movements are working right.
How is Hirschsprung disease treated? — Doctors treat HD by doing surgery to take out the part of the bowel that is not working normally.

Can my child live a normal life after treatment? — Probably. Most children and adults who have HD surgery live normal lives, but they can have bowel problems. These can include:

●Not being able to control bowel movements
●Constipation
●Bowel inflammation – This can happen before or after HD surgery. This means it is important to watch for symptoms of bowel inflammation, and see a doctor or nurse if they happen.

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