Hirschsprung's Disease - Topic Overview
What is Hirschsprung's disease?
Hirschsprung's disease is a birth defect that affects the nerve cells in the large
intestine. These nerve cells control the muscles that normally push food and
waste through the large intestine.
In babies who have
Hirschsprung's disease, the muscles in the wall of the large intestine don't
relax , which prevents stool from passing. This can lead to trapped stool,
infection, pain and swelling, and bowel problems.
Most of the time,
the disease is found soon after birth. It occurs in about 1 out of every 5,000 newborns and is most common in male babies.1
rare cases, the disease can be life-threatening.
What causes Hirschsprung's disease?
know what causes the disease, but it tends to run in families. It may also be
linked to other medical problems, such as
Down syndrome and
congenital heart disease.
What are the symptoms?
Symptoms can depend on how severe the problem is and how old the child is. They may include:
- A swollen
- Problems passing stool. Newborns with the disease may not pass their
first stool until at least 48 hours after birth.
- Not wanting to eat.
- Not gaining weight or growing.
Hirschsprung's disease can lead to serious and even life-threatening problems if it is not found early. Be sure to take your baby for regular checkups, and talk to your doctor if you have concerns.
How is Hirschsprung's disease diagnosed?
children are diagnosed with Hirschsprung's disease during their first year. A
doctor may think that a child has the disease based on the child's symptoms and
the results of a physical exam.
Other tests may be done to
confirm the diagnosis, such as:
- A tissue sample from the rectum
- An abdominal
- An X-ray of the large intestine
- Anorectal manometry. In this test, a small tube is
inserted into the rectum to measure how well the muscles in the anus are
working. If the muscles don't relax, it can sometimes be a sign of Hirschsprung's disease.