n SA Journal of Radiology - MRI diagnosis of Alexander disease : pictorial interlude

Volume 16, Issue 3
  • ISSN : 1027-202X
  • E-ISSN: 2078-6778



Alexander disease (fibrinoid leucodystrophy; originally described by Alexander in 1949) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein (GFAP). It typically presents with frontal preponderance of white matter abnormalities and macroencephaly. We report a case of leucoencephalopathy with macroencephaly that shows characteristic MRI features of Alexander disease.

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