Last Updated: October 26, 2017

Hirschsprung's Disease - Short-Segment and Long-Segment HD

Overview

Hirschsprung’s disease (HD) is a congenital disease of the large intestine that causes constipation in infants and young children.

Under normal circumstances, muscle contractions move food through the large intestine (also called the colon). Those muscle contractions are controlled by nerve cells that sense food within the colon. In Hirschsprung’s disease, those nerve cells are absent from the colon. A term to describe this kind of missing nerve cells is aganglia. As a result of the disease, food becomes stuck and blocks the colon, worsening the constipation.

sigmoid colon and rectum highlighted

HD is present from birth and affects roughly 1 out of 5,000 children born. It is five times more common in boys. The disease varies in severity depending on how much of the colon is affected.

Most infants are diagnosed during the first few days after birth because they are unable to pass meconium (newborn stool). Mild cases of Hirschsprung’s disease may be diagnosed at a later age. HD treatment involves removing/bypassing the diseased portion of the colon in order to achieve normal bowel movement. Most children with HD respond well to treatment and live normal adult lives.

Causes and Risk Factors

Hirschsprung’s disease is caused by a defect in the migration of nerve cells along the developing colon. This developmental arrest occurs between 5 and 12 weeks of gestation (fetal development in the womb) for reasons that are not fully understood. Normally, the bundles of nerve cells called ganglia constitute the enteric nervous system, which lines the gastrointestinal tract and regulates the movement of content entering the body (as food) and exiting the body (as stool). Without the proper nerve signals, the muscles that push feces through the colon and towards the anus are in effect paralyzed. The risk factors for HD include:

Symptoms of Hirschsprung’s Disease

HD symptoms are highly dependent on disease severity. In a newborn, the inability to pass stool within 48 hours of birth is an indication of HD. If Hirschsprung’s disease is only present in a small percentage of the colon, symptoms may not appear until an older age.

Newborn symptoms include:

Delayed symptoms in toddlers/older children include:

Diagnosis

If doctors suspect Hirschsprung’s disease, various tests are performed to examine the colon.

Treatment and Prevention

Surgical removal of the diseased colon and rerouting of the healthy colon to the anus is the most common treatment for Hirschsprung’s disease. Most patients recover fully and achieve normal bowel movement through adulthood. Following surgery, children may continue to experience some symptoms and, depending on age, face challenges during toilet training. The risk of infection is also high following surgery. Without treatment, severe inflammation, infection (enterocolitis) and perforation may occur inside the intestines.

Hirschsprung’s disease is an inherited congenital disease with no means of prevention. Parents of children with HD can avoid serious complications by ensuring early diagnosis and treatment.

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Authored by: Tina Shahian, PhD