Hirschsprung's Disease

Hirschsprung's disease is an inherited disease affecting the colon. It manifests itself shortly after the birth by intestinal obstruction of a various severity. The disorder affects about one newborn out of 5,000 live births.


The precise cause is not known. The problem is related to a genetic disorder that causes disruption of intestinal nervous system development. The nervous system is located in the wall of intestines and it is important for proper bowel movement. The affected intestinal section lacks nerve ganglia and it is congenitally narrowed and impassable for the stool. Rectum is always affected and the severity of the disease depends on the length of the affected intestine.


The affected section of bowel is narrowed and the stool accumulates in front of the narrowing causing local dilation of the intestine. This leads to a condition known as the toxic megacolon. Intestinal obstruction (ileus) manifests with abdominal pain and vomiting. The abdomen is visibly distended and tactile sensitive. Milder forms of Hirschsprung's disease may not cause a total intestinal obstruction and they are often diagnosed later during the patient’s life.


Hirschsprung's disease is very probable when the first newborn’s stool (meconium) does not occur within 48 hours after the delivery. Ultrasound may show narrowing of the intestine with a dilated section in front of it. In milder cases in patients of higher age, a colonoscopy may be performed. When we take a biopsy from the narrowed intestine, we do not find ganglion cells.


The treatment is primarily surgical as the affected portion of the intestine must be removed and healthy sections are sewn together. The procedure may be quite complicated and sometimes it requires more than one operation.


Jiri Stefanek, MD  Author of texts: Jiri Stefanek, MD
 Contact: jiri.stefanek@seznam.cz
 Sources: basic text sources