Hirschsprung's disease: A worrying disease

The Hirschsprung's disease (HSCR) is a congenital intestinal motility disorder. Its main pathogenetic cause consists of an absence of enteric ganglion cells from the distal intestine, due to a defect in the neural crest cells migration between the 5th and the 7th week. As a result, knowledge of the embryonic development of the intestine and its nervous system is important for understanding the pathology of the malformation. Various genetic mutations have been associated with HSCR. The incidence of HSCR is estimated at 1:5000 live births, with a male to female ratio of 4:1. The symptoms are typical of functional bowel obstruction. Current technology provides several diagnostic options, but the histological one is considered the most reliable. Surgical repair is the treatment of choice and involves resection of the abnormally innervated (aganglionic) bowel.

Keywords: Hirschsprung disease, congenital intestinal malformation, paediatric surgery