ABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy with a genetic predilection for the cerebral vessels. It is caused by mutations in the NOTCH3 gene and commonly occurs in middle-aged individuals. Clinical manifestations range from stroke, transient ischemic attack, and migraine to neuropsychiatric symptoms. We present a case of a 40-year-old patient who came in with headache, blurry vision, progressive right-sided weakness, and behavioral changes. The diagnostic workup included several possibilities, including central nervous system (CNS) infection, stroke, transient ischemic attack, and inherited disorders like mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS). After proper systemic and genetic workup, we diagnosed this as a case of CADASIL.
