Atypical focal MRI lesions in a case of juvenile Alexander's disease

被引：28
作者：
Probst, EN
Hagel, C
Weisz, V
Nagel, S
Wittkugel, O
Zeumer, H
Kohlschütter, A
机构：
[1] Univ Hamburg, Hosp Eppendorf, Dept Neuroradiol, D-20246 Hamburg, Germany
[2] Univ Hamburg, Hosp Eppendorf, Dept Neuropathol, D-20246 Hamburg, Germany
[3] Univ Hamburg, Hosp Eppendorf, Dept Pediat, D-20246 Hamburg, Germany
来源：
ANNALS OF NEUROLOGY | 2003年 / 53卷 / 01期
关键词：
D O I：
10.1002/ana.10382
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We present a juvenile case of Alexander's disease with atypical focal magnetic resonance imaging-detected lesions and elevated levels of lactate in cerebrospinal fluid. The diagnosis was based on the neuropathological finding of a diffuse accumulation of Rosenthal fibers within the brain and the spinal cord. The diagnosis was confirmed by detection of a mutation in exon 1 at nucleotide position 249 of glial fibrillary acidic protein cDNA, a finding previously reported in cases of infantile Alexander's disease.
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页码：118 / 120
页数：3
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