CARASIL, a rare genetic cause of stroke in the young

{Table 1} A 27-year old nonhypertensive and nondiabetic male from rural Karnataka, India, presented with a history of gait disturbance caused by progressive right-sided hemiparesis of 15-year duration; behavioral abnormalities with features such as excessive talking, easy irritability, and aggressive behaviour suggestive of schizoaffective disorder of 10-year duration which had relapsed; neck and back pain of 10-year duration; and, episodes of generalised tonic clonic seizures (GTCS) of 1.5-year duration. Magnetic resonance imaging (MRI) of the brain showed bilateral symmetrical periventricular white matter T2 fluid-attenuated inversion recovery (FLAIR) hyperintensities with relative sparing of the subcortical U-fibers [Figure 3] and involvement of the corpus callosum and external capsule [Figure 4], as well as bilateral temporal lobe white matter [Figure 5]. Other inherited disorders that cause leukoaraiosis in young patients in adulthood such as CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy), HERNS (hereditary endotheliopathy with retinopathy, nephropathy, and stroke), and Fabry's disease were excluded by the absence of their respective clinical signs, MRI findings, mode of inheritance, and appropriate laboratory investigations.