Hirschsprung's disease

This disease is named for Harald Hirschsprung, the Dutch physician who first described the disease in 1886.

It involves an enlargement of the colon, caused by bowel obstruction resulting from an aganglionic section of bowel (the normal enteric nerves are absent) that starts at the anus and progresses upwards. The length of bowel that is affected varies but seldom stretches for more than a foot or so.

The disease is congenital but occasionally, symptoms do not appear until early adulthood. In infants, the primary symptom is not passing meconium within the first 24 to 48 hours of life.

Definitive diagnosis is via rectal biopsy. Treatment is always surgical, with resection of the offending area, often with a colostomy performed before a second stage procedure to reanastomose the colon with the anus.

Treatment Treating Hirschsprung's disease requires surgery to remove the affected bowel and then join the healthy bowel segments. There are three different approaches, each with a high rate of success. The choice depends on the overall health of the child and the training and experience of the surgeon.

Sometimes a single surgical procedure is recommended to remove the aganglionic segment, then bring the healthy bowel down into the rectum, and join it to the rectal wall: this is called a "pull-through" operation. If an infant is too small or a child is critically ill, a temporary colostomy may be necessary prior to the pull-through.

In a colostomy, the colon is brought out to the surface of the abdomen so that stool contents can be discharged into a special bag for disposal.

Subsequent to the colostomy, the pull-through surgery can be planned. The colostomy opening can then closed at the time of the pull-through, or, in some cases, at a third operation after it is clear that the pull-through is working.

For most children with Hirschsprung's disease, there are no long-term complications after successful surgery. A significant minority of children, though, are troubled with persistent constipation, encopresis (stool incontinence), or persistent enterocolitis.

Personal Note: Being affected with this disease, and not having had the surgery due to incorrect early diagnosis, I am inspired to say that living with this problem without surgery is very difficult. You may experince humiliation due to inability to control bowel movments, severe pain when having bowel movments, and constant illness due to the inability to remove toxins from the body. Please do not allow a child to grow up with this disease.