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.
| Original language | English |
|---|---|
| Pages (from-to) | 330-332 |
| Number of pages | 3 |
| Journal | Journal of Stroke and Cerebrovascular Diseases |
| Volume | 21 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - May 2012 |
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Keywords
- Cerebral infarction
- mucopolysaccharidosis
- Scheie syndrome
ASJC Scopus subject areas
- Clinical Neurology
- Surgery
- Rehabilitation
- Cardiology and Cardiovascular Medicine
Cite this
Scheie syndrome diagnosed after cerebral infarction. / Fujii, Daiki; Manabe, Yasuhiro; Tanaka, Tomotaka; Kono, Syoichiro; Sakai, Yasuko; Narai, Hisashi; Omori, Nobuhiko; Furujyo, Mahoko; Abe, Koji.
In: Journal of Stroke and Cerebrovascular Diseases, Vol. 21, No. 4, 05.2012, p. 330-332.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Scheie syndrome diagnosed after cerebral infarction
AU - Fujii, Daiki
AU - Manabe, Yasuhiro
AU - Tanaka, Tomotaka
AU - Kono, Syoichiro
AU - Sakai, Yasuko
AU - Narai, Hisashi
AU - Omori, Nobuhiko
AU - Furujyo, Mahoko
AU - Abe, Koji
PY - 2012/5
Y1 - 2012/5
N2 - 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.
AB - 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.
KW - Cerebral infarction
KW - mucopolysaccharidosis
KW - Scheie syndrome
UR - http://www.scopus.com/inward/record.url?scp=84860208853&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84860208853&partnerID=8YFLogxK
U2 - 10.1016/j.jstrokecerebrovasdis.2010.09.006
DO - 10.1016/j.jstrokecerebrovasdis.2010.09.006
M3 - Article
VL - 21
SP - 330
EP - 332
JO - Journal of Stroke and Cerebrovascular Diseases
JF - Journal of Stroke and Cerebrovascular Diseases
SN - 1052-3057
IS - 4
ER -