The Teaching Point

Alexander disease is a rare leukodystrophy with a frontal predominance which occurs due to a mutation in the GFAP gene. MRI demonstrates diffuse white matter signal abnormality with frontal predominance. Cystic changes in the involved white matter are seen at a later stage. A periventricular T1W hyperintense, T2W hypointense rim, as well as contrast enhancement are also demonstrated. Atypical findings include signal abnormality in the brainstem and cervical spine.






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From the manuscript

MRI diagnosis of infantile Alexander disease in a 14 month old African boy

Free full text article: MRI diagnosis of infantile Alexander disease  in a 14 month old African boy

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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