Atypical focal MRI lesions in a case of juvenile Alexander's disease.
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.
Probst
Eva Neumaier
EN
Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany. eneumaie@uke.uni-hamburg.de
Hagel
Christian
C
Weisz
Vanja
V
Nagel
Sandra
S
Wittkugel
Oliver
O
Zeumer
Hermann
H
Kohlschütter
Alfried
A
D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D002648:Child; D005091:Exons; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D013116:Spinal Cord / Q000473:pathology
D005904:Glial Fibrillary Acidic Protein