title: Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
abstract: Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.
authors.affiliation: Department of Neurology, Saint-Antoine Hospital, AP-HP, Paris, France. emmanuel.roze@sat.aphp.fr
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
authors.forename: Valérie
authors.initials: V
authors.lastname: Cochen
authors.forename: Sophie
authors.initials: S
authors.lastname: Sangla
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
authors.forename: Anne
authors.initials: A
authors.lastname: Roubergue
authors.forename: Smaranda
authors.initials: S
authors.lastname: Leu-Semenescu
authors.forename: Marie
authors.initials: M
authors.lastname: Vidaihet
mesh_terms: D004421:Dystonia / Q000209:etiology; D005260:Female; D006225:Hand; D006801:Humans; D008875:Middle Aged; D019957:Motor Skills Disorders / Q000209:etiology; D009068:Movement / Q000502:physiology*; D010300:Parkinson Disease / Q000209:etiology; D015518:Rett Syndrome / Q000175:diagnosis* / Q000503:physiopathology*