Hirschsprung’s disease (HD or HSCR), or congenital megacolon, or aganglionic megacolon, is a form of megacolon that occurs when part or all of the large intestine or parts of the gastrointestinal tract have no ganglion cells and cannot function. During ordinary embryonic growth, cells in the neural crest migrate to the large intestine (colon) to form the networks of nerves known as the myenteric plexus (Auerbach plexus) (involving the smooth muscle layers of the gastrointestinal tract formation) along with also the submucosal plexus (Meissner plexus) (inside the submucosa of the gastrointestinal tract walls). In Hirschsprung’s disease, the migration isn’t complete and a portion of the colon lacks those nerve cells which regulate the activity of the colon. The affected section of this colon can’t unwind and pass stool throughout the colon, making an obstruction. In many affected individuals, the disease affects the region of the colon nearest the anus. In rare situations, the shortage of neural bodies entails more of this colon. In 5 percent of instances, the whole colon is changed. The stomach and esophagus might be affected, too.
A newborn who has Hirschsprung’s disease usually can’t have a bowel movement in the days after birth. In mild cases, the condition might not be detected until later in childhood. Uncommonly, Hirschsprung’s disease is first diagnosed in adults.
Surgery to bypass or remove the diseased part of the colon is the treatment.
Symptoms of Hirschsprung’s disease
Signs and symptoms of Hirschsprung’s disease differ with the seriousness of the problem. Usually, symptoms and signs occur soon after birth, but sometimes they are not clear until later in life.
Normally, the clearest sign is that a toddler’s failure to have a bowel movement within 48 hours following birth.
Other signs and symptoms in newborns may include:
- Swollen belly
- Vomiting, including vomiting a green or brown substance
- Constipation or gas, which might make a newborn fussy
- Diarrhea
In older children, signs and symptoms can include:
- Swollen belly
- Chronic constipation
- Gas
- Failure to thrive
- Fatigue
Treatment
Treatment of Hirschsprung’s disease consists of surgical removal (resection) of the abnormal section of the colon, followed by reanastomosis.
