Hirschsprung's Disease

(Congenital Aganglionic Megacolon)

ExitCare ImageHirschsprung's disease is a disorder in which there is a failure of the nerves to grow normally to a portion of the bowel. In about three quarters of the cases the portion of bowel that is involved is located in the rectosigmoid. This is the lower portion of the large bowel. The portion of the bowel without nerves remains small and the colon above this area is not strong enough to force the fecal material (stool) through. Because of this, the area of bowel above the diseased area becomes large from being filled with stool. This is three times more common among males.


Babies with this disease often are unable to have a bowel movement within the first 24 hours of life. When the condition goes undetected, they may also develop failure to thrive and have abdominal distension (the belly gets large). These children are often undernourished and have anemia (low red blood cells). Sometimes there will be inflammation and infection associated. This is called enterocolitis.


The diagnosis (learning what is wrong) of this condition can often be made on exam; however x-rays will help confirm the examination findings.


The treatment of Hirschsprung's disease requires an operation. Usually this operation is done in two stages. The first stage creates a colostomy. A colostomy is a procedure where a portion of the gut is brought to the surface of the abdomen (belly) so the opening is on the abdominal wall. Once that is healed, the stool will be collected in a bag on the abdomen (colostomy bag). This is done to decompress the enlarged colon (large bowel). A second operation is then required to remove the abnormal part of bowel and pull the normal bowel down to the rectal sphincter.