What is hirschsprung disease?

Hirschsprung Disease

Hirschsprung's disease

Hirschsprung's disease is a birth defect in which certain nerve cells in a part of the large intestine are missing, and the muscles in that area can't relax. Because the muscle contractions that normally push food and digestive waste through that area can't occur, stool gets trapped, and inflammation and constipation develop.

Hirschsprung's disease may be a sudden, life-threatening condition, or it may be a long-term problem that is less serious but harder to diagnose. Symptoms of Hirschsprung's disease include intermittent vomiting, diarrhea, fever, and a severely swollen belly. It is usually diagnosed in infancy. If it is not diagnosed until later in life, other symptoms may appear, such as loss of appetite, lack of the urge to pass stools, and poor overall health.

Hirschsprung's disease is treated with surgery to remove the affected part of the intestine.

What are the symptoms of Hirschsprung disease?

Symptoms of Hirschsprung disease can depend on how severe the problem is and how old the child is.

Most newborns pass stool within the first one or two days of their life. Problems passing stool can be a symptom of Hirschsprung disease.

Children who are diagnosed when they're older may have symptoms. Symptoms may include:

  • A swollen belly.
  • Trouble passing stool.
  • Vomiting.
  • Not wanting to eat.
  • Constipation.
  • Not gaining weight or growing.

How is Hirschsprung disease treated?

Children will need surgery to remove the part of the colon that doesn't work right. It's often done within the first days or months of life. Doctors can often do the surgery using tools put through small cuts (incisions) in the child's stomach. Or the surgery may be done through the anus.

How is Hirschsprung disease diagnosed?

Most children who have Hirschsprung disease are diagnosed 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.

If the doctor suspects that a child has the disease, he or she will do some tests to find out more. These tests may include X-rays and a test to measure how well the muscles in the anus are working.

Sometimes these tests can provide enough information to make a diagnosis. But the doctor may confirm the diagnosis by taking a tissue sample (biopsy) from the rectum. The cells in the sample are then looked at under a microscope.

How can you care for your child who has Hirschsprung's disease?

Hirschsprung's disease is treated in the hospital. At home, follow any instructions for care after surgery, such as for eating, activity, and wound care. Give medicines as prescribed. Go to any follow-up visits with your child's doctor. And contact your doctor if your child isn't getting better as expected.

What is Hirschsprung disease?

Hirschsprung disease is a birth defect that affects the nerve cells in the large intestine (colon). These nerve cells control the muscles that normally push food and waste through the colon.

In children who have Hirschsprung disease, nerve cells are missing from part or all of the colon. Without nerve cells, the colon can't move stool correctly. This can cause trapped stool, serious inflammation of the colon, and narrowing of the rectum. In most cases, the disease affects the end part of the colon. But it can also affect other parts.

Most of the time, the disease is found soon after birth. It is most common in male babies. And it can be linked to other medical problems that your doctor may want to check for.

In rare cases, it can be life-threatening.

What causes Hirschsprung disease?

Doctors don't know what causes Hirschsprung 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.

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