CADASIL

Discussion:

This case demonstrates a young patient presenting with non-specific symptoms who was found to have a NOTCH3 mutation, confirming a diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts (CADASIL). Interestingly, there was suspicion of an underlying process, such as CADASIL, when the initial imaging demonstrated microvascular changes involving the temporal horns, which is atypical for chronic microvascular disease related to aging.

CO-AUTHORS: Daniel Nichols, Mazurique Malan MD

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