A Cook's tour around Hirschsprung's disease

Summary 

Hirschsprung's disease (HSCR) is a polygenic disease for which the most important genetic loci are now known. It affects about 1/5000 live births with a potentially lethal neonatal bowel obstruction. It may present later as intractable constipation, but this is rare. Treatment relies on timely diagnosis, which, in a minority will be facilitated by recognition of associated syndromes. The reference standard of diagnosis is the rectal suction biopsy, although ano-rectal manometry has a place, and the clinician should be able to recognise the appearance of HSCR on contrast enema. Treatment is surgical, by resection of the aganglionic segment. This can be done as a neonatal one-stage operation in most cases. Despite the success of surgery in saving life, continence and bowel habit are frequently disturbed, at least up until puberty.

Keywords: Hirschsprung's disease, Genetic disease, Neonatal bowel obstruction