Hirschsprung's disease

Hirschsprung's disease (HSCR) is characterized by a lack of enteric nervous system ganglion cells (aganglionosis) in a variable extent of distal bowel. It is the most common congenital bowel motility disorder and affected neonates usually present with distal intestinal obstruction in the first few days of life. Current treatment involves resection of the aganglionic bowel and a ‘pull through’ procedure to bring the normally innervated bowel down to the anal margin. Despite advances in surgery, outcomes can be poor, especially in long-segment HSCR in which a longer segment of bowel or the entire colon is aganglionic. Children are more prone to enterocolitis and up to 75% have problems with incontinence or constipation. Some children require a long-term colostomy. This article aims to provide an overview of Hirschsprung's disease, outlining the aetiology of HSCR and management of children with HSCR.