Cerebral arteriopathy associated with Arg179His ACTA2 mutation. (29th November 2013)

• Record Type: Journal Article
• Authors: Amans, Matthew R; Stout, Charles; Fox, Christine; Narvid, Jared; Hetts, Steven W; Cooke, Daniel L; Higashida, Randall T; Dowd, Christopher F; McSwain, Hugh; Halbach, Van V
• Is Part Of: BMJ case reports. Volume 2013
• Publication Date: 2013-11-29
• Subjects: Brain -- Congenital -- Genetic -- Pediatrics -- Vasculitis; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2013-010997
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : ACTA2 mutations have recently been shown to cause a multisystem smooth muscle dysfunction syndrome that may result in pediatric stroke. We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and provide high resolution imaging of the cerebral arteries demonstrating novel findings of multiple tiny aneurysms (particularly in the posterior circulation), as well as the more characteristic imaging phenotype of straightened and narrowed proximal intracranial vessels, dilated cervical vessels and occlusion of the M1 MCA segment without lenticulostriate collateral formation. This newly identified disease should be added to the differential diagnosis of pediatric stroke and cerebral vasculopathy. Neuroradiologists, interventionalists, surgeons and neurologists should become familiar with this rare disease and its clinical sequelae.