Scheie syndrome diagnosed after cerebral infarction

Daiki Fujii, Yasuhiro Manabe, Tomotaka Tanaka, Syoichiro Kono, Yasuko Sakai, Hisashi Narai, Nobuhiko Omori, Mahoko Furujyo, Koji Abe

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)330-332
Number of pages3
JournalJournal of Stroke and Cerebrovascular Diseases
Issue number4
Publication statusPublished - May 2012
Externally publishedYes


  • Cerebral infarction
  • Scheie syndrome
  • mucopolysaccharidosis

ASJC Scopus subject areas

  • Surgery
  • Rehabilitation
  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine


Dive into the research topics of 'Scheie syndrome diagnosed after cerebral infarction'. Together they form a unique fingerprint.

Cite this