title: CADASIL disease, an inherited slowly progressive vascular dementia: case report with radiologic and electron microscopic findings.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) disease, a genetically determined arteriopathy, is a rare cause of vascular dementia. We present a case report of a 50-year-old man with migraines associated with left-sided weakness since age 34 years, a stroke at age 43 years, followed by progressive dementia. Magnetic resonance imaging revealed diffuse leukoencephalopathy with involvement of bilateral anterior temporal lobes. Skin biopsy was performed because of clinical suggestion of CADASIL and positive family history. Electron microscopy revealed granular osmophilic material deposits in dermal arterioles, diagnostic for CADASIL disease. A brief discussion of reasons for false-negative skin biopsy findings, differential diagnosis, and treatment of patients with CADASIL disease is presented.
authors.affiliation: Department of Pathology, University of Florida, College of Medicine, Jacksonville Campus, Jacksonville, FL 32209, USA. sania.shuja@jax.ufl.edu
authors.forename: Sania
authors.initials: S
authors.lastname: Shuja
authors.forename: Justin
authors.initials: J
authors.lastname: Lindquist
authors.forename: Kevin P
authors.initials: KP
authors.lastname: Lee
authors.forename: Scott
authors.initials: S
authors.lastname: Silliman
authors.forename: Raafat
authors.initials: R
authors.lastname: Makary
mesh_terms: D001706:Biopsy; D001921:Brain / Q000098:blood supply / Q000473:pathology*; D046589:CADASIL / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology / Q000628:therapy; D003937:Diagnosis, Differential; D018450:Disease Progression; D005188:False Negative Reactions; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D008881:Migraine Disorders / Q000209:etiology; D010375:Pedigree; D011859:Radiography; D012867:Skin / Q000098:blood supply / Q000473:pathology* / Q000648:ultrastructure; D020521:Stroke / Q000209:etiology