An obstruction of the large intestine caused by inadequate motility (muscular movement of the bowel) that occurs as a congenital condition.
Causes, incidence, and risk factors
Digested matter normally passes through the intestine by rhythmic contraction of the muscles that line the gut (peristalsis). These muscles are stimulated to contract by nerve bundles, called ganglia, located between the muscle layers. In Hirschsprung's Disease, the ganglia are missing, usually from only a few centimeters but sometimes from long segments of bowel. Segments in which there is no peristalsis will not pass any digested matter beyond that point. The end result is that the bowel can not push material through and is effectively obstructed. Intestinal contents accumulate behind the obstruction causing distention of the bowel and abdomen. If the condition is severe, symptoms may occur in the newborn with failure to pass meconium , failure to pass stool, abdominal distention , and vomiting . Milder cases may not be diagnosed until a later age. In older children they may be characterized by chronic constipation , abdominal distention, and decreased growth rate. Hirschsprung's disease causes one fourth of all newborn intestinal obstruction , but the condition may not be detected until later in infancy or childhood. It occurs 5 times more often in males than in females. Hirschsprung's disease is sometimes associated with other inherited or congenital conditions such as Down syndrome .
Signs and tests
A physical examination shows distended abdomen with loops of bowel that are detectable by touch (palpable). A rectal examination may show decreased tone of the rectal muscles. Tests used in the diagnosis of Hirschsprung's disease include:
abdominal X-ray , showing distention of colon with gas and feces barium enema anal manometry (a balloon is dilated in the rectum to measure the anal sphincter pressure) rectal biopsy , showing absence of ganglion nerve cells
Treatment
Most cases require surgery. A temporary colostomy (an opening from the bowel to the abdominal wall) is performed as soon as possible to prevent complications associated with bowel obstruction . Resection (removal) of the affected bowel segment and reconnection of the colon is usually performed when the infant is 6 months or older. Antibiotics are given if a hole in the bowel (perforation) or enterocolitis has occurred.
Expectations (prognosis)
Symptoms are eliminated in 90% of children after surgical treatment. A better outcome is associated with early treatment, and shorter bowel segment involvement.
Calling your health care provider
Call your child's health care provider if symptoms of Hirschsprung's disease develop. Call your child's health care provider if abdominal pain or other new symptoms develop after treatment for Hirschsprung's disease.