Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?

摘要: Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of women with retardation unknown etiology. We report case woman at age 49 years. This emphasizes diagnostic value movement disorders, including hand stereotypies, Parkinsonism, and dystonia, adults syndrome.