Atypical focal MRI lesions in a case of juvenile Alexander's disease.
case_report · Level V
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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.
Medical subject headings
- Alexander Disease
- Brain
- Glial Fibrillary Acidic Protein
- Magnetic Resonance Imaging