Hirschsprung's disease and the brain.

A link between factors governing brain development and the development of the ENS is not surprising as both processes are largely controlled by the same or similar neural growth factors which are expressed at more or less in the same spatio-temporal time frame. Hirschsprung's disease (HSCR) occurs as an isolated phenotype in 70% of cases but is associated with other congenital abnormalities and syndromic phenotypes in the remainder, with CNS anomalies making up 6.78%. These associations may be underestimated and are possibly pathogenetically linked to genetic associations and probable gene-gene interaction. In this review we explore known syndromes and other ENS associations of HSCR, looking at possible pathogenetic associations. We point out that borderline cognitive abilities, attention-deficit disorders and possible epileptic seizures in Hirschsprung's patients should be fully investigated. We recognise that this group of patients remain a challenge from a clinical and functional management point of view, and suggest possible management guidelines.