Atypical focal MRI lesions in a case of juvenile Alexander's disease
- 25 November 2002
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 53 (1) , 118-120
- https://doi.org/10.1002/ana.10382
Abstract
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.Keywords
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