Hirschprung Disease

What causes HD?

Before birth, a child’s nerve cells normally grow along the intestines in the direction of the anus. With HD, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some HD is inherited, meaning it is passed from parent to child through genes. HD is not caused by anything a mother did while pregnant.

What is Hirschsprung disease (HD)?

Hirschsprung disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and stools are difficult to pass. Some children with HD can’t pass stool at all, which can result in the complete blockage of the intestines, a condition called intestinal obstruction. People with HD are born with it and are usually diagnosed when they are infants. Less severe cases are sometimes diagnosed when a child is older. An HD diagnosis in an adult is rare.

What causes HD?

Before birth, a child’s nerve cells normally grow along the intestines in the direction of the anus. With HD, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some HD is inherited, meaning it is passed from parent to child through genes. HD is not caused by anything a mother did while pregnant.

What are the symptoms of HD?

The main symptoms of HD are constipation or intestinal obstruction, usually appearing shortly after birth. Constipation in infants and children is common and usually comes and goes, but if your child has had ongoing constipation since birth, HD may be the problem.

How is HD diagnosed?

HD is diagnosed based on symptoms and test results.

A doctor will perform a physical exam and ask questions about your child’s bowel movements. HD is much less likely if parents can identify a time when their child’s bowel habits were normal.

If HD is suspected, the doctor will do one or more tests.
X rays

An x ray is a black-and-white picture of the inside of the body. To make the large intestine show up better, the doctor may fill it with barium liquid. Barium liquid is inserted into the large intestine through the anus.

If HD is the problem, the last segment of the large intestine will look narrower than normal. Just before this narrow segment, the intestine will look bulged. The bulging is caused by blocked stool stretching the intestine.
Manometry

During manometry, the doctor inflates a small balloon inside the rectum. Normally, the rectal muscles will relax. If the muscles don’t relax, HD may be the problem. This test is most often done in older children and adults.
Biopsy

Biopsy is the most accurate test for HD. The doctor removes a tiny piece of the large intestine and looks at it with a microscope. If nerve cells are missing, HD is the problem.


How is HD treated?
Pull-through Procedure

HD is treated with surgery called a pull-through procedure. A surgeon removes the segment of the large intestine lacking nerve cells and connects the healthy segment to the anus. The pull-through procedure is usually done soon after diagnosis.

Ostomy surgery

An ostomy allows stool to leave the body through an opening in the abdomen. Although most children with HD do not need an ostomy, a child who has been very sick from HD may need an ostomy to get better before the pull-through procedure.

For ostomy surgery, the surgeon first takes out the diseased segment of the large intestine. The end of the healthy intestine is moved to an opening in the abdomen where a stoma is created. A stoma is created by rolling the intestine’s end back on itself, like a shirt cuff, and stitching it to the abdominal wall. An ostomy pouch is attached to the stoma and worn outside the body to collect stool. The pouch will need to be emptied several times each day