Multifocal white matter lesions associated with the D313Y mutation of the Galactosidase A gene.
White matter lesions (WML) are clinically relevant since they are associated with a variety of neurological disorders, e. g. strokes, cognitive decline, depression, or epilepsy.
Figure 2. FLAIR- (A), T2- (B) and T1- (C)
MR images of index patient II.7 showed widespread, punctuated (arrows) and confluent (yellow circles)
WML from periventricular (yellow) to subcortical (red) without gadolinium enhancement.
Lesions were associated with “black holes” in T1-weigthed images (C) as a surrogate of severe demyelination and axonal injury. MR-angiography (D) showed no signs of cerebral vasculitis or intracranial arteriosclerosis.
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