Scheie Syndrome Diagnosed After Cerebral Infarction

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• 作者：Daiki Fujii ; MD^&lowast ; ; Yasuhiro Manabe ; MD ; PhD^&lowast ; ; ^{ymanabe@okayama3.hosp.go.jp} ; Tomotaka Tanaka ; MD^&lowast ; ; Syoichiro Kono ; MD^&lowast ; ; Yasuko Sakai ; MD^&lowast ; ; Hisashi Narai ; MD ; PhD^&lowast ; ; Nobuhiko Omori ; MD ; PhD^&lowast ; ; Mahoko Furujyo ; MD^&dagger ; ; Koji Abe ; MD ; PhD^&Dagger ;
• 关键词：Cerebral infarction ; mucopolysaccharidosis ; Scheie syndrome
• 刊名：Journal of Stroke and Cerebrovascular Diseases
• 出版年：2012
• 出版时间：May, 2012
• 年：2012
• 卷：21
• 期：4
• 页码：330-332
• 全文大小：234 K

文摘

We report a 41-year-old woman with Scheie syndrome diagnosed after cerebral infarction. She presented with acute onset dysarthria and right upper limb weakness. The neurologic findings revealed dysarthria, right central facial paralysis, mild right hemiparesis, and mild sensory impairment in the right arm and leg. Diffusion-weighted magnetic resonance imaging (MRI) showed subtle high signal lesions in the left corona radiata and posterior limb of the internal capsule. The diagnosis was made by a coarse facial appearance, claw hands, pigmentary degeneration of?the bilateral retinas, and a deficiency of the enzymatic activity of lysosomal ¦Á-L-iduronidase. The patient was successfully treated with intravenous recombinant tissue plasminogen activator (rtPA) followed by enzyme replacement therapy. The prognosis of this disease would improve with enzyme replacement therapy. It is necessary to be aware of cerebral infarction in patients with Scheie syndrome.