Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Abstract

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a genetic disorder caused by mutations in the NOTCH3 gene, leading to recurrent subcortical infarcts, migraine with aura, early dementia, and psychiatric disorders. Diagnosis is confirmed by genetic testing and MRI. Treatment is symptomatic, with a focus on stroke prevention. Clinical presentations can vary, and early genetic testing is crucial for diagnosis and management. We present a case of a 46-year-old woman with progressive difficulty walking, vertigo, severe headache, and transient paresthesia. She had a long history of recurrent neurological symptoms, including syncope and chronic headaches, and recently experienced memory deficits. MRI showed characteristic hyperintense white matter lesions and a lacunar infarct, leading to a diagnosis of CADASIL.