Hirschsprung disease (HD), also known as the congenital aganglionic megacolon is a motor disorder of the colon which is caused by the failure of neural crest cells to migrate completely during intestinal development. Neural crest cells are precursors of enteric ganglionic cells. The affected colonic segment fails to relax, causing a functional obstruction. This article focuses on the clinical features and diagnosis of the disease and its management.
Hirschsprung disease generally affects the recto-sigmoid colon (short-segment disease) in about 80% patients, however, the aganglionosis may extend proximally to the sigmoid colon (long-segment disease) in about 15-20% patients. In approximately 5% of patients, the entire colon is affected (total colonic aganglionosis). In some case, the small intestine may also be involved. Clinical Features Usually the diagnosis of HD is in the neonatal…
