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MRI diagnosis of Alexander disease

C G Muralidharan, R P S Tomar, R Aggarwal
South African Journal of Radiology | Vol 16, No 3 | a296 | DOI: https://doi.org/10.4102/sajr.v16i3.296 | © 2012 C G Muralidharan, R P S Tomar, R Aggarwal | This work is licensed under CC Attribution 4.0
Submitted: 24 February 2012 | Published: 10 September 2012

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C G Muralidharan, MH Jalandhar, India
R P S Tomar, MH Jalandhar, India
R Aggarwal, AF Hospital, Halwara, India

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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.


Macroencephaly, Leucoencephalopathy, Frontal preponderance, Periventricular rim, Cystic cavitation


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