Hirschprung's Disease

Alternative names:  congenital megacolon

Definition:  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:  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.

Symptoms:

  • failure to pass meconium shortly after birth
  • failure to pass a first stool within 24 to 48 hours after birth
  • constipation
  • abdominal distention
  • vomiting
  • watery diarrhea (in the newborn)
  • poor weight gain
  • slow growth (child 0-5 years)
  • malabsorption

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:

  • abdominal X-ray, showing distention of colon with gas and feces
  • barium enema
  • 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 often 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.  In some cases, one stage surgery to correct the disease can be accomplished.

Expectations (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
  • bowel obstruction

As with any procedure we perform, your child's safety and well-being our #1 priority.  As always, feel free to contact us with any question that you have.  We would be happy to answer it for you.