Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes

Cortical dysplasia (CD) represents a common neuropathologic substrate of pe diatric epilepsy, one frequently encountered in surgical resection specimen s from infants and children with intractable seizure disorders, including i nfantile spasms. Severe CD shows similarities to structural features noted in tubers from individuals with tuberous sclerosis (TSC), The latter disord er, one with neurocutaneous and visceral manifestations, results from mutat ions in one of two recently cloned genes, TSC1 or TSC2, which encode (respe ctively) the proteins hamartin and tuberin, There is circumstantial evidenc e that both proteins may influence cell growth and differentiation, specifi cally that they may represent growth suppressors. Neither protein has a def ined role in brain development. We discuss and illustrate neuropathologic f eatures of both CD and TSC, and discuss the patterns and time course of ham artin/tuberin expression in normal brain, CD and TSC. Other recently cloned genes associated with cortical malformations encompassed by the term CD ar e briefly described. Copyright (C) 1999 S. Karger AG, Basel.