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What Is Hirschsprung Disease?

Hirschsprung disease is a condition that a baby is born with. It affects the large intestine, also called the colon. In this disease, the nerve cells that are needed to make the colon squeeze are missing from a part of the bowel. This causes waste (stool) to get stuck, which can cause a serious blockage.

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What Is Hirschsprung Disease?

Hirschsprung disease is a condition that a baby is born with. It affects the large intestine, also called the colon. In this disease, the nerve cells that are needed to make the colon squeeze are missing from a part of the bowel. This causes waste (stool) to get stuck, which can cause a serious blockage.

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What Causes Hirschsprung Disease?

This disease happens when the nerve cells in the colon do not form correctly while a baby is developing during pregnancy. The nerve cells are supposed to grow all the way to the end of the bowel, but in Hirschsprung disease, they stop too early. Doctors do not know the exact cause, but it can sometimes run in families.

What Are the Symptoms?

The main symptom is in a newborn baby who does not pass their first stool (meconium) within the first 48 hours of life. Other signs include a swollen, hard belly, vomiting green or brown fluid, and constipation. In an older child, symptoms can be chronic constipation and a failure to grow well.

How Is It Diagnosed?

A doctor will first do a physical exam and may order an X-ray to see if there is a blockage in the colon. The main way to diagnose the condition is with a rectal biopsy. A doctor will take a tiny piece of tissue from the baby's rectum to look at it under a microscope. If the nerve cells are missing, the diagnosis is confirmed.

How Is Hirschsprung Disease Treated?

The only treatment for Hirschsprung disease is surgery. A surgeon will remove the part of the colon that is missing the nerve cells. They will then connect the healthy part of the colon down to the anus. This surgery allows the child to pass stool normally.

The Danger of Enterocolitis

The most serious complication of this condition is Hirschsprung-associated enterocolitis (HAEC). This happens when the blocked bowel becomes inflamed and infected. Symptoms include a fever, a swollen abdomen, and explosive, foul-smelling diarrhea. This is a medical emergency that requires immediate antibiotic treatment and hospital care, as it can lead to sepsis if not treated quickly.

FAQs on Hirschsprung Disease

Is Hirschsprung disease common?

No, it is a rare condition. It happens in about 1 in every 5,000 births. It is more common in boys than in girls.

Can the surgery be done right away?

Sometimes. Some babies may first need a temporary surgery called an ostomy. This creates an opening on the belly for stool to come out. This gives the baby time to grow stronger before the main surgery is done.

Will my child be healthy after surgery?

Yes. After surgery, most children with this disease are able to pass stool normally and live full, healthy lives. Some may have constipation or other bowel issues from time to time.

When to See Your Doctor

You must call your doctor right away if your newborn baby has not passed a stool in the first day or two of life. You should also see a doctor if your baby has a very swollen belly, is vomiting green or brown fluid, or has severe constipation. These are signs of a serious problem.