title: Scheie syndrome diagnosed after cerebral infarction.
abstract: 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 α-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.
authors.affiliation: Department of Neurology, National Hospital Organization Okayama Medical Center, Okayama, Japan.
authors.forename: Daiki
authors.initials: D
authors.lastname: Fujii
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Manabe
authors.forename: Tomotaka
authors.initials: T
authors.lastname: Tanaka
authors.forename: Syoichiro
authors.initials: S
authors.lastname: Kono
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Sakai
authors.forename: Hisashi
authors.initials: H
authors.lastname: Narai
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Omori
authors.forename: Mahoko
authors.initials: M
authors.lastname: Furujyo
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
mesh_terms: D000328:Adult; D002544:Cerebral Infarction / Q000209:etiology* / Q000473:pathology*; D005260:Female; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy