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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