Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
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.
Roze
Emmanuel
E
Department of Neurology, Saint-Antoine Hospital, AP-HP, Paris, France. emmanuel.roze@sat.aphp.fr
Cochen
Valérie
V
Sangla
Sophie
S
Bienvenu
Thierry
T
Roubergue
Anne
A
Leu-Semenescu
Smaranda
S
Vidaihet
Marie
M
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*