Hirschsprung's Disease Symptoms and Treatments

Hirschsprung's disease is a congenital cause of intestinal blockage or obstruction.

Hirschsprung's disease is uncommon, occurring in about 1 in every 5,000 births.

It is caused by a lack of ganglion cells (nerve cells) at the end of the colon and rectum. Normal peristalsis requires these ganglion cells, so without them, you don't get the wave-like contractions of the intestines that move things along, causing them to become contracted and blocking the passage of stool out of the colon. This leads to constipation, which is the classic symptom of this disorder.

Newborn babies will usually pass their first bowel movement (the black tarry meconium) within the first twenty-four hours of life.

Most of the children with Hirschsprung's disease will have a delay in passing meconium. Some others will develop chronic constipation later in the first month of life. Either way, it can lead to intestinal obstruction, with many associated signs and symptoms, including:

• Abdominal distention
• Vomiting, which can be bilious
• Poor feeding
• Poor weight gain

Testing that can be done to diagnosis Hirschsprung's disease and includes:

• X-rays, which may show gaseous distention of the intestines and an absence of gas and stool in the rectum
• A barium enema, which may show a transition zone or an area between the normal colon and the constricted area that is affected by the lack of ganglion cells
• Anal manometry, a test that measures the pressure of the internal anal sphincter in the rectum

To confirm the diagnosis, a rectal biopsy is done, which should show the lack of ganglion cells in the end of the colon and rectum.

Testing for the suspicion of Hirschsprung's should usually start with a barium enema. If the barium enema is normal, then there is a very low chance of the child having Hirschsprung's. Children with an abnormal barium enema or who fail regular medical treatments for constipation should then go on to have a rectal biopsy.

Treatment of Hirschsprung's disease is by surgical repair, which consists of first creating a colostomy and then later removing the part of the colon without the ganglion cells and connecting the healthy parts back together (pull-through operation).

It is sometimes possible to do a single-stage pull-through procedure or even to do the surgery laparoscopically.

The type of surgical repair will likely depend on your child's specific case. For example, some infants are too sick when they are first diagnosed to have one stage surgery.

Other things to know about Hirschsprung's disease include that it:

• Is also called congenital aganglionic megacolon
• It is more common in boys
• It can be associated with Down syndrome, Waardenburg syndrome, neurofibromatosis, and other syndromes and is thought to be caused by mutations in many different genes
• Although typically a disease of newborns, Hirschsprung's is sometimes suspected in older children with chronic constipation, especially if they never had normal bowel movements on their own without the aid of enemas or suppositories or didn't develop chronic constipation until after they were weaned from breastfeeding
• Was named for Harald Hirschsprung, a pathologist who described two children with the disorder in 1887 Copenhagen

A pediatric gastroenterologist and a pediatric surgeon can be helpful in diagnosing and treating your child with Hirschsprung's disease.