title: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a case report with review of literature.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited arterial disease, commonly overlooked or misdiagnosed. We report a case of CADASIL in a 51 years old woman who presented with progressive subcortical dementia, recurrent ischemic events and seizures in the absence of known vascular risk factors of five years' duration. Her mother had a history of similar illness. Magnetic resonance imaging (MRI) of brain revealed subcortical and deep white matter hyperintense lesions within the cerebral white matter on T2-weighted images. DNA mutation of Notch 3 gene confirmed the diagnosis of CADASIL.
authors.affiliation: Bombay Hospital Institute of Medical Sciences, 12, New Marine Lines, Mumbai-400 020, India.
authors.forename: J K
authors.initials: JK
authors.lastname: Gurumukhani
authors.forename: M
authors.initials: M
authors.lastname: Ursekar
authors.forename: B S
authors.initials: BS
authors.lastname: Singhal
mesh_terms: D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007194:India; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009460:Neurologic Examination