title: Cerebral arteriopathy associated with Arg179His ACTA2 mutation.
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.
authors.affiliation: Department of Radiology and Biomedical Imaging, University California San Francisco, San Francisco, California, USA.
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Amans
authors.forename: Charles
authors.initials: C
authors.lastname: Stout
authors.forename: Christine
authors.initials: C
authors.lastname: Fox
authors.forename: Jared
authors.initials: J
authors.lastname: Narvid
authors.forename: Steven W
authors.initials: SW
authors.lastname: Hetts
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Cooke
authors.forename: Randall T
authors.initials: RT
authors.lastname: Higashida
authors.forename: Christopher F
authors.initials: CF
authors.lastname: Dowd
authors.forename: Hugh
authors.initials: H
authors.lastname: McSwain
authors.forename: Van V
authors.initials: VV
authors.lastname: Halbach
mesh_terms: D000199:Actins / Q000235:genetics*; D015901:Angiography, Digital Subtraction; D002536:Cerebral Arteries / Q000000981:diagnostic imaging / Q000473:pathology*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography; D009154:Mutation; D015878:Mydriasis / Q000151:congenital; D010641:Phenotype; D020521:Stroke / Q000175:diagnosis / Q000235:genetics*
chemical_list: C541116:ACTA2 protein, human; D000199:Actins
keywords: Brain; Congenital; Genetic; Pediatrics; Vasculitis