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  • Title: MRI diagnosis of infantile Alexander disease in a 14 month old African boy.
    Author: Dlamini N, du Plessis V.
    Journal: J Radiol Case Rep; 2016 Oct; 10(10):7-14. PubMed ID: 28580052.
    Abstract:
    Alexander disease, also known as fibrinoid leukodystrophy, is a rare leukoencephalopathy which occurs due to a mutation in the glial fibrillary acid protein (GFAP) gene. Magnetic resonance imaging (MRI) has proven to be highly sensitive in making the diagnosis. Typical MRI findings, in combination with positive genetic blood analysis, confirm the diagnosis.
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