Atypical focal MRI lesions in a case of juvenile Alexander's disease
Corresponding Author
Eva Neumaier Probst MD
Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany
Department of Neuroradiology, University Hospital Eppendorf, Martinistrasse 52, 20246 Hamburg, GermanySearch for more papers by this authorChristian Hagel MD
Department of Neuropathology, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorVanja Weisz MD
Department of Pediatrics, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorSandra Nagel MD
Department of Pediatrics, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorOliver Wittkugel MD
Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorHermann Zeumer MD
Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorAlfried Kohlschütter MD
Department of Pediatrics, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorCorresponding Author
Eva Neumaier Probst MD
Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany
Department of Neuroradiology, University Hospital Eppendorf, Martinistrasse 52, 20246 Hamburg, GermanySearch for more papers by this authorChristian Hagel MD
Department of Neuropathology, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorVanja Weisz MD
Department of Pediatrics, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorSandra Nagel MD
Department of Pediatrics, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorOliver Wittkugel MD
Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorHermann Zeumer MD
Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorAlfried Kohlschütter MD
Department of Pediatrics, University Hospital Eppendorf, Hamburg, Germany
Search for more papers by this authorAbstract
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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