Hirschsprung’s disease, or congenital intestinal aganglionosis, is a lack of nerve cell bodies (ganglion cells) in a segment of the bowel. This interferes with the coordinated squeezing action called peristalsis, which normally moves intestinal contents forward.
Symptoms of Hirschsprung’s Disease
Hirschsprung’s disease is a rare condition that people are born with. Symptoms usually begin within a few days after birth. But some people don’t develop them until childhood or even adulthood.
In infants, the primary symptom is not passing meconium, an infant’s first bowel movement, within the first 24 to 48 hours of life. Other symptoms include:
- Vomiting and abdominal distention as a newborn
- Chronic constipation
- More rarely diarrhea, fever, and distention (symptoms associated with enterocolitis – inflammation of the small intestine and colon).
Symptoms in older children include passing small watery stools, diarrhea, and a lack of appetite.
A diagnosis is made by a combination of barium x-rays and rectal biopsy. In a lower GI series, x-rays are used to measure the width of the colon and rectum. Rectal biopsy involves removing a piece of rectal tissue to learn whether the nerve cells that control intestinal muscle contractions are present. Rectal manometry, a test that involves recording pressure changes within the colon and rectum, is sometimes performed.