Hirschsprung’s Disease and Inflammatory Bowel Disease

Hirschsprung’s disease (HSCR) is a developmental defect of the enteric nervous system. The etiology of HSCR has been considered multifactorial, involving both genetic and environmental factors. Inflammatory bowel disease (IBD) arises as a result of the interaction of environmental and genetic factors leading to immunological responses and inflammation in the gastrointestinal tract. There are several case series suggesting an association between HSCR and IBD, particularly Crohn’s disease. A recent population-based study showed that individuals with HSCR had a five times higher risk for IBD than individuals without HSCR. The pathophysiological link between HSCR and IBD is not fully understood, but there are similarities between the disorders with respect to altered microbiota and inflammatory responses. It is unclear to what extent genetic factors are involved.