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.
Keywords: Alexander disease; Fibrinoid leukodystrophy; Frontal lobe predominance; Infantile; Van der Knaap MRI diagnostic criteria.