Multifocal Infarctions as Manifestation of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

ABSTRACT Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare small vessel disease caused by a pathogenic variant in the NOTCH3 gene. We present a unique case of acute multifocal infarcts in a 51‐year‐old female following a syncopal event, prompting investigations and a first diagnosis of CADASIL. Diffusion‐weighted imaging and corresponding apparent diffusion coefficient images demonstrated multiple sites of diffusion restriction, including middle cerebellar peduncles bilaterally, the splenium of the corpus callosum, and the right temporal lobe subcortical area. The authors propose this to be multifactorial, owing to three main mechanisms: (1) susceptibility of neuronal tissue particularly in watershed regions, (2) reduced cerebrovascular compliance and (3) poor cerebral perfusion especially during predisposing events.