Hirschsprung's disease

Causes and Risks:
Congenital megacolon is cause by the absence of nerves cells (called ganglia cells) in the large intestine which stimulate the rhythmic contraction which moves material through the gut ( peristalsis ). These ganglia cells may be absent from only a short segment of large intestine or they may be absent from all of it. Segments in which there is no peristalsis will not pass any bowel content beyond that point. The end result is that the bowel, although open, can not move material and is effectively obstructed.

Accumulation of intestinal contents behind the obstruction causes 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 .

Prevention:
Prevention may not be possible.

Symptoms:



Signs and Tests:
A physical examination shows distended abdomen with loops of bowel that are detectable by touch (palpable). A rectal examination may also be performed.

Tests used in the diagnosis of Hirschsprung's disease include:



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. Supportive measures include rehydration with intravenous fluids and correction of electrolyte abnormalities if present. Antibiotic therapy is indicated if a hole in the bowel (perforation) or enterocolitis has occurred.

Prognosis:
Symptoms are eliminated in 90% of children after surgical treatment. A better outcome is associated with early treatment.

Complications:

  • perforation of the intestine
  • enterocolitis



Call Your Healthcare 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.


This illustration shows the major organs of the digestive system. Their relative sizes and positioning in the body are also demonstrated.