Resumo

VILLALBA HERRERA, Ericka Wendie  e  QUISPE QUELCA, Jhovana. SINDROME DE RETT. Rev. Act. Clin. Med [online]. 2014, vol.46, pp. 2431-2436. ISSN 2304-3768.

Rett Syndrome is a complex process of child psychomotor impairment begins in early childhood and almost exclusively affects girls. It is manifested by the arrest of brain development and maturation, characterized by a regression in psychomotor development, deceleration of head growth, loss of social involvement in the early stages, loss of expressive language, among other clinical manifestations, which may even be confused with infantile autism or dementia. Its origin is associated with an alteration or mutation of a gene on the X chromosome called MECP2, which is why finding this syndrome in children is very rare, and that possess a single X chromosome this mutation will be lethal killing. The development of this syndrome is evidenced in four well-defined steps or stages that start from the fifth month of life the infant, which in chronological order are: stage of stagnation, regression stage of development, pseudo stationary stage and finally a stage of late motor deterioration. The essential feature of this syndrome is the development of multiple specific deficits following a period of normal functioning after birth.

Palavras-chave : Syndrome; Chromosome; Mutation; Ataxia; Apraxia; Spasticity.