More than lacunes and leukoencephalopathy: A hemorrhagic stroke in CADASIL

不仅仅是腔隙和脑白质病:CADASIL 患者发生出血性卒中

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Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene. Its clinical presentation includes recurrent lacunar infarcts, transient ischemic attacks, cognitive decline, migraine, and psychiatric disorders. Neuroimaging typically reveals white matter changes, particularly in the basal ganglia, external capsules, and anterior temporal lobes. While CADASIL is primarily associated with ischemic events, hemorrhagic manifestations are rare. We present a case of a CADASIL patient who presented with left-sided hemiparesis. Imaging revealed a right paracentral intracerebral hemorrhage, an atypical finding in CADASIL. This case highlights the potential for hemorrhagic complications in CADASIL and emphasizes the importance of recognizing these rare presentations in clinical practice.

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