Maladie de Hirschsprung, diagnostic et prise en charge actuelle

Abstract

Hirschsprung disease is a congenital malformation in which, due to lack of neural crest cell migration, the distal part of the bowel has no innervation, leading to functional obstruction. This rare disease (1/5000 live birth) has a complex genetic and physiopathologic background. Depending on the disease level, symptoms vary from distal obstruction to short bowel syndrome. Diagnosis is based on suction rectal biopsy examination and contrast enema. After the obstruction relief, surgical cure aim to remove the aganglionic bowel and to perform laparoscopic or transanal pullthrough. Enterocolitis or anal soiling in childhood can disturb follow up.