Roze Emmanuel, Cochen Valérie, Sangla Sophie, Bienvenu Thierry, Roubergue Anne, Leu-Semenescu Smaranda, Vidaihet Marie
Department of Neurology, Saint-Antoine Hospital, AP-HP, Paris, France.
Mov Disord. 2007 Feb 15;22(3):387-9. doi: 10.1002/mds.21276.
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.
雷特综合征是一种X连锁神经发育障碍，导致严重的精神运动发育迟缓。通常由儿科医生或儿科神经科医生进行诊断。因此，成年神经科医生可能会忽略病因不明的精神运动发育迟缓女性患雷特综合征的可能性。我们报告了一例49岁被诊断为雷特综合征的女性病例。本报告强调了运动障碍，包括手部刻板动作、帕金森症和肌张力障碍，在成年雷特综合征患者中的诊断价值。
