Hirschsprung Disease

A person with this disease is missing the nerve cells known as ganglia cells in part or all of the large bowel. These cells are absent at birth. The normal function of these cells is to enable the bowel muscle to relax and contract. This motion pushes the stool through the intestine. Stool cannot pass through the segment of the bowel where the nerves are missing. As a result, stool collects at that point causing an intestinal blockage.

Indications of this disease usually begin within a few days after birth. Rarely, symptoms do not appear until childhood or even adulthood.

In an infant, symptoms include:

• not passing the first bowel movement, called meconium, within the first 24 to 48 hours after birth
• difficulty having a bowel movement
• watery stools if bowel movements do occur
• swelling of the abdomen
• vomiting
• rapid breathing as the disease progresses
• irritability

In older children symptoms include:

• passing small, ribbon-like, or watery stools. Stools are passed only rarely.
• chronic constipation
• lack of appetite
• poor weight gain
• decreased rate of growth

This disease is present at birth. It occurs because some nerve cells fail to develop in portions of the large bowel while the fetus is growing in the uterus. The disease may be inherited, but most of the time the cause is unknown. It is more common in boys than girls. This disease may also be associated with other conditions that are present at birth such as Down syndrome.

This disease cannot be prevented. If a person has this disease, genetic counseling may be useful to explain to the person and his or her family how the disease may be passed on to children.

The healthcare professional will first do a physical exam. Abdominal swelling may be present. There may not be any fecal material in the anal canal or rectum, the areas in which stool is stored before it leaves the body. Also, there may be a gush of pale, liquid stool and gas as the healthcare professional withdraws a finger after performing the rectal exam.

Severely affected infants will die without treatment. Other long-term effects include a possible perforation of the intestine, and infection or inflammation of the intestines and colon. These, too, may lead to death. Treatment helps to prevent these complications.

This disease is not contagious. It can be inherited in some cases. Genetic counseling may be useful for family members of children with this disease.

Most people with this disease will need surgery. Usually, the affected part of the bowel is removed. Surgery is often a two-part process.

Surgery can be complicated by bleeding, infection, or an allergic reaction to the anesthetic or to pain medications. If antibiotics are used, they may cause stomach upset or allergic reactions. Some people experience involuntary loss of stool after the surgery.

After surgery, symptoms usually go away. Most children are able to have normal bowel movements after surgery. In general, the earlier a person receives treatment, the better the outcome.

The child's caregiver should contact a healthcare professional right away if new or worsening symptoms occur after surgery.