Hirschsprung's disease
Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is congenital and a result of missing nerve cells in the muscles of the colon.
A newborn who has Hirschsprung's disease usually can't pass stool. In mild cases, the condition might not be detected until later in childhood, or even adulthood.
Surgery to bypass or remove the diseased part of the colon is the treatment.
Pathophysiology
During normal prenatal development:
cells from the neural crest migrate into the colon to form the networks of nerves between the smooth muscle layers of the gastrointestinal tract wall (myenteric plexus) and within the submucosa of the tract wall (submucosal plexus).Â
In Hirschsprung disease:
the migration is not complete and part of the colon lacks these nerve bodies that regulate the activity of the colon.Â
The affected segment cannot relax and pass stool through, creating an obstruction.
Defects in the differentiation of neuroblasts into ganglion cells and accelerated ganglion cell destruction within the intestine may also contribute.
In Hirschsprung's disease, the segment lacking neurons (aganglionic) becomes constricted
causing the normal, proximal section of bowel to become distended with faeces. .
