A Diagnostic and Therapeutic Challenge: Managing CADASIL with Epilepsy and Prothrombotic Risk

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare, inherited cerebral microvascular disease primarily caused by mutations in the NOTCH3 gene, leading to a spectrum of neurological symptoms including recurrent strokes, cognitive decline, migraine with aura, and mood disturbances. This report presents the clinical course of a 52-year-old male patient who presented with neurological symptoms beginning at age 50 and was subsequently diagnosed with CADASIL following genetic analysis. Notably, the patient also exhibited early-onset epilepsy, a less common finding in CADASIL which typically manifests later. A further unique aspect was concurrent thrombophilia, complicating treatment significantly. Initial anticoagulant therapy resulted in a new ischemic event, necessitating a switch to dual antiplatelet therapy due to CADASIL's microbleed risk. This case underscores CADASIL's diagnostic complexities, especially with comorbid genetic factors and atypical presentations like early epilepsy, stressing the need for multidisciplinary care and individualized risk-benefit assessments in management.