Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Abstract

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is one of the most common heritable cerebral arteriopathy. Responsible for stroke and dementia in young adults and can be diagnosed by skin biopsy. We report a case of a 42 year old man with recurrent transient ischemic attacks (TIA). A detailed neurologic examination revealed poor score in MMSE (20/30) defect mainly seen in recall, repetitions. Executive dysfunction, memory and language impairment were also found. Motor system examination revealed grade 3 power in right upper and lower limb with more severe weakness of distal muscles in form of grip weakness and slippage of chappals. Neuroimaging and genetic analysis for Notch-3 confirmed the diagnosis. Imaging studies suggested greater involvement in the temporal and frontal lobes along with deep areas of the brain.