What is Hirschsprung Disease?

Hirschsprung (HURSH-sprung) disease, or HD, is a disease of the large intestine.

The large intestine is also sometimes called the colon. The word bowel can refer to the large and small intestines. HD usually occurs in children. It causes constipation, which means that bowel movements are difficult. Some children with HD can't have bowel movements at all. The stool creates a blockage in the intestine.

If HD is not treated, stool can fill up the large intestine. This can cause serious problems like infection, bursting of the colon, and even death.

Most parents feel frightened when they learn that their child has a serious disease.

Why does HD cause constipation?

Normally, muscles in the intestine push stool to the anus, where stool leaves the body. Special nerve cells in the intestine, called ganglion cells, make the muscles push. A person with HD does not have these nerve cells in the last part of the large intestine.

Healthy large intestine. Nerve cells are found throughout the large intestine.

Short-segment HD. Nerve cells are missing from the last segment of the large intestine.

Long-segment HD. Nerve cells are missing from most or all of the large intestine and sometimes the last part of the small intestine.

In a person with HD, the healthy muscles of the intestine push the stool until it reaches the part without the nerve cells. At this point, the stool stops moving. New stool then begins to stack up behind it.

Sometimes the ganglion cells are missing from the whole large intestine and even parts of the small intestine before it. When the diseased section reaches to or includes the small intestine, it is called long-segment disease. When the diseased section includes only part of the large intestine, it is called short-segment disease.