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MRI diagnosis of Alexander disease

By C G Muralidharan, R P S Tomar and R Aggarwal

Abstract

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

Topics: Macroencephaly, Leucoencephalopathy, Frontal preponderance, Periventricular rim, Cystic cavitation, Medical physics. Medical radiology. Nuclear medicine, R895-920
Publisher: AOSIS
Year: 2012
DOI identifier: 10.4102/sajr.v16i3.296
OAI identifier: oai:doaj.org/article:814c2578e1bf4c06b0e24bc851e285ae
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