Hirschsprung Disease (HD) is a congenital disorder of the intestines. It is caused when the nerve cells that are normally present in the wall of the intestine do not form properly. These nerve cells, called ganglion cells, help move stool through the intestines in a coordinated fashion called peristalsis. When normal peristalsis cannot occur, stool backs up and causes a partial or complete bowel obstruction. The major symptom is severe constipation; sometimes this obstruction may lead to a life-threatening infection (enterocolitis) and possible perforation of the bowel. The portion of the intestines that is affected can vary from a very short segment in the rectum to the entire colon and part of the small intestines.
Children born with HD have severe constipation and are often diagnosed after they fail to pass stool within the first 48 hours of life. Other symptoms include vomiting, poor appetite, poor growth, and abdominal distention..
All children with HD will require surgery to remove the portion of the rectum/colon that does not have ganglion cells. Some children will require a colostomy for a few months before their definitive surgery; others will have a pull-through without a colostomy (abnormal intestine is removed and the normal bowel attached just above the anal canal- known as a pull-through operation).
Long Term Outcomes
Children with HD will be followed closely throughout childhood and adolescence, with some being followed into adulthood. Many children will have some degree of bowel dysfunction as a chronic condition.
Children with HD may develop enterocolitis (infection of the intestines). This is serious and could be life threatening. This can happen if stool and bacteria back up in the colon. Children with enterocolitis may have fever, abdominal distension, vomiting, explosive foul-smelling diarrhea, bloody stool, and/or lethargy (sleepiness).
The primary treatment of enterocolitis is to perform rectal irrigations to remove the stool and to administer antibiotics to treat the infection. Patients may require admission to the hospital for IV fluids and antibiotics. Enterocolitis may also occur for several years after surgery.