Children with Hirschsprung's disease are born with missing nerve cells at the end of their bowels. Hirschsprung's disease is a rare illness in which the rectum and sometimes the colon cannot function normally, resulting in serious constipation or obstruction of the bowel.
Hirschsprung's disease occurs while a baby is still developing in the mother’s womb. In a healthy developing child, the nerve cells grow from the beginning to the end of the bowel and help the colon to relax and pass stool. With Hirschsprung's disease, the child’s nerve cells do not grow to the end of the bowel.
In most cases, the nerve cells are missing from areas in the child’s rectum and sigmoid colon (part of the colon that is closest to the rectum and anus). Once the stool reaches the area where the nerve cells are missing, the blockage forms and the child develops symptoms.
There are multiple types of Hirschsprung's disease classifications, including:
Long-segment Hirschsprung's disease are nerve cells are missing from most or all of the large intestine and could be missing from the last segment of the small intestine.
Short-segment Hirschsprung's disease are nerve cells are missing from the last segment of the large intestine.
Entire large and small intestine, although rare, in some children the nerve cells are missing in the entire large and small intestine.
Hirschsprung’s disease affects five times as many male babies as it does female babies. In a few cases, a dangerous infection called enterocolitis can occur. This infection damages the lining of the intestines, which is a serious issue. In extreme cases, the intestine may also rupture or burst.
In order to diagnose the disorder, a biopsy of the rectal tissue is performed.
Children suspected of having the disease should get immediate medical treatment, including:
Some cases may require surgery. The condition can involve varying lengths of large intestine beginning at the rectum. Once the involved intestine is identified, this portion is removed and the uninvolved intestine is then used to surgically create a new rectum for the child.
This operation, referred to as a “pull-through” can be done as either a single or two-stage operation.
Such complex surgeries are performed routinely with excellent outcomes at Children’s Health.
American Board of Pediatrics/Gastroenterology