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.affiliation: Department of Radiology, University of Massachusetts, Worcester, Massachusetts, USA.
authors.forename: Charles
authors.initials: C
authors.lastname: Stout
authors.affiliation: Department of Pediatric Neurology, University California San Francisco, San Francisco, California, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Fox
authors.affiliation: Department of Radiology and Biomedical Imaging, University California San Francisco, San Francisco, California, USA.
authors.forename: Jared
authors.initials: J
authors.lastname: Narvid
authors.affiliation: Department of Radiology and Biomedical Imaging, University California San Francisco, San Francisco, California, USA.
authors.forename: Steven W
authors.initials: SW
authors.lastname: Hetts
authors.affiliation: Department of Radiology and Biomedical Imaging, University California San Francisco, San Francisco, California, USA.
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Cooke
authors.affiliation: Department of Radiology and Biomedical Imaging, University California San Francisco, San Francisco, California, USA.
authors.forename: Randall T
authors.initials: RT
authors.lastname: Higashida
authors.affiliation: Department of Radiology and Biomedical Imaging, University California San Francisco, San Francisco, California, USA.
authors.forename: Christopher F
authors.initials: CF
authors.lastname: Dowd
authors.affiliation: Department of Radiology and Biomedical Imaging, University California San Francisco, San Francisco, California, USA.
authors.forename: Hugh
authors.initials: H
authors.lastname: McSwain
authors.affiliation: Department of Radiology and Biomedical Imaging, University California San Francisco, San Francisco, California, USA.
authors.forename: Van V
authors.initials: VV
authors.lastname: Halbach
mesh_terms: D000199:Actins / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D002545:Brain Ischemia / Q000235:genetics*; D002539:Cerebral Arterial Diseases / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D020244:Infarction, Middle Cerebral Artery / Q000150:complications / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D059906:Neuroimaging; D020521:Stroke / Q000235:genetics*
chemical_list: C541116:ACTA2 protein, human; D000199:Actins
keywords: Brain; Congenital; Genetic; Pediatrics; Vasculitis