Introduction
Hirschsprung disease is a rare condition in which nerve cells are missing from part of the colon. The colon, also called the large intestine, absorbs fluids and holds stool so that it can be passed out of the body. In Hirschsprung disease, the colon has trouble moving stool out through the rectum. This leads to constipation.
What are the causes?
The cause of this condition is not known. In children who have the disease, it is present from birth (congenital). Nerve cells stop growing in the baby's colon while it is still developing in the womb. Hirschsprung disease is not caused by anything a mother does during pregnancy. The condition tends to run in families.
What are the signs or symptoms?
Signs and symptoms in infants may include: …show more content…
Failure to grow and gain weight.
Lack of energy.
How is this diagnosed?
This condition is diagnosed based on:
Your child's symptoms.
A physical exam.
Your child may have other tests to confirm the diagnosis. These tests may include:
Taking an X-ray of your child’s colon after dye has been put into the colon (barium enema).
Removing a tiny piece of colon and looking at it under a microscope (biopsy). A biopsy is the most accurate way to diagnose the disease.
There is no way to diagnose the disease before birth.
How is this treated?
This condition is treated with surgery to remove the part of the colon without nerve cells. This type of surgery is called a pull-through procedure. The abnormal part of the colon is removed and then the healthy end is pulled through and attached to the rectum.
The pull-through procedure may be done in stages. If your child is too weak or sick to have the full procedure, a temporary surgery called an ostomy may be done.
In an ostomy:
The abnormal part of the colon is removed and the healthy end is attached to an opening in the abdomen.
Stool will come through this opening and collect in a pouch.
In time, the opening can be closed and the pull-through procedure completed.
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Hirschsprung disease is a rare condition in which nerve cells are missing from part of the colon. The colon, also called the large intestine, absorbs fluids and holds stool so that it can be passed out of the body. In Hirschsprung disease, the colon has trouble moving stool out through the rectum. This leads to constipation.
What are the causes?
The cause of this condition is not known. In children who have the disease, it is present from birth (congenital). Nerve cells stop growing in the baby's colon while it is still developing in the womb. Hirschsprung disease is not caused by anything a mother does during pregnancy. The condition tends to run in families.
What are the signs or symptoms?
Signs and symptoms in infants may include: …show more content…
Failure to grow and gain weight.
Lack of energy.
How is this diagnosed?
This condition is diagnosed based on:
Your child's symptoms.
A physical exam.
Your child may have other tests to confirm the diagnosis. These tests may include:
Taking an X-ray of your child’s colon after dye has been put into the colon (barium enema).
Removing a tiny piece of colon and looking at it under a microscope (biopsy). A biopsy is the most accurate way to diagnose the disease.
There is no way to diagnose the disease before birth.
How is this treated?
This condition is treated with surgery to remove the part of the colon without nerve cells. This type of surgery is called a pull-through procedure. The abnormal part of the colon is removed and then the healthy end is pulled through and attached to the rectum.
The pull-through procedure may be done in stages. If your child is too weak or sick to have the full procedure, a temporary surgery called an ostomy may be done.
In an ostomy:
The abnormal part of the colon is removed and the healthy end is attached to an opening in the abdomen.
Stool will come through this opening and collect in a pouch.
In time, the opening can be closed and the pull-through procedure completed.
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