Hirschsprung disease is a rare condition in which nerve cells that control contractions are missing from part of the large intestine (colon). The colon absorbs fluids and holds stool so that it can be passed out of the body with movements called contractions. In Hirschsprung disease, the colon has trouble moving stool out through the rectum. This leads to constipation.
This condition is most commonly diagnosed at birth or shortly after.
What are the causes?
The cause of this condition is not known. It tends to run in families. 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 …show more content…
Lack of energy.
How is this diagnosed?
This condition is diagnosed based on:
Your child's symptoms.
A physical exam.
An X-ray of your child’s colon after dye has been put into the colon (barium enema).
An abdominal X-ray.
Removal of a colon tissue sample to be examined under a microscope (biopsy).
Measuring pressure in the rectum by inserting a balloon and inflating it (anal manometry).
There is no way to diagnose this condition before birth.
How is this treated?
This condition is treated with surgery to remove the part of the colon without nerve cells (pull-through procedure). In this 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. During an ostomy:
The abnormal part of the colon is removed and the healthy end is attached to an opening in the abdomen. Sometimes the entire colon has to be removed.
Stool will come through the opening in the abdomen and collect in a pouch.
When your child is ready, the opening may be closed and the pull-through procedure completed. Sometimes, the ostomy is permanent, and the pull-through procedure is not