This article is focus on the currently knowledge about Rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and laboratory diagnosis, neuropathology, electrophysiology. and clinical outcome (epilepsy, respiratory disorders, autonomic disturbances and nutritional aspects). Although it has been known as a female condition, nowadays it is described the possibility of affected males with a different phenotype.
Rett syndrome; Mental retardation; Multiple handicap; Epilepsy; Clinical genetics
