MRI diagnosis of Alexander disease

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 fron...

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Bibliographic Details
Published in:SA journal of radiology 2012-09, Vol.16 (3), p.116
Main Authors: Muralidharan, C.G, Tomar, R.P.S, Aggarwal, R
Format: Article
Language:English
Subjects:
Alexander disease
Care and treatment
Case studies
Diagnosis
Magnetic resonance imaging
Online Access:Get full text
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Description
Summary: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.
ISSN:1027-202X
DOI:10.7196/SAJR.656