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Case Reports
. 2003 Jan;53(1):118-20.
doi: 10.1002/ana.10382.

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

Eva Neumaier Probst  1 , Christian Hagel, Vanja Weisz, Sandra Nagel, Oliver Wittkugel, Hermann Zeumer, Alfried Kohlschütter
Affiliations
Case Reports

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

Eva Neumaier Probst et al. Ann Neurol. 2003 Jan.

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.

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