Cerebral arteriopathy associated with Arg179His ACTA2 mutation.
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ABSTRACT:
SUBMITTER: Amans MR
PROVIDER: S-EPMC3847515 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Publications
Cerebral arteriopathy associated with Arg179His ACTA2 mutation.
Amans Matthew R MR Stout Charles C Fox Christine C Narvid Jared J Hetts Steven W SW Cooke Daniel L DL Higashida Randall T RT Dowd Christopher F CF McSwain Hugh H Halbach Van V VV
BMJ case reports 20131129
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 vess ...[more]
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