title: Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient.
abstract: The presence of large vessels malformations has not been reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We describe a CADASIL patient in whom a brain cerebellar arteriovenous malformation was revealed by magnetic resonance (MR) imaging. An MR angiogram documented also an aneurysm along the right intracranial vertebral artery at the junction with the posterior-inferior cerebellar artery. The aneurysm was successfully treated by means of endovascular coil embolization. No neurological complication occurred in our patient during the angiographic procedure. In this case, in addition to an incidental coexistence of CADASIL and large vessels abnormalities, a causal role of the Notch pathway alteration could be hypothesized. Dysregulation of the Notch pathway is linked to several human diseases besides CADASIL. In one of these (the Alagille syndrome) intracranial aneurysms are reported. This hypothesis contrasts however with the absence of similar reports in other CADASIL cases and needs corroboration in large series.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Pescini
authors.forename: C
authors.initials: C
authors.lastname: Sarti
authors.forename: L
authors.initials: L
authors.lastname: Pantoni
authors.forename: S
authors.initials: S
authors.lastname: Mangiafico
authors.forename: S
authors.initials: S
authors.lastname: Bianchi
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: D
authors.initials: D
authors.lastname: Inzitari
mesh_terms: D000328:Adult; D046589:CADASIL / Q000473:pathology*; D002531:Cerebellum / Q000098:blood supply*; D002533:Cerebral Angiography; D005260:Female; D006801:Humans; D002532:Intracranial Aneurysm / Q000473:pathology*; D002538:Intracranial Arteriovenous Malformations / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D014711:Vertebral Artery / Q000473:pathology*