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Case report
Cerebral arteriopathy associated with Arg179His ACTA2 mutation
  1. Matthew R Amans1,
  2. Charles Stout2,
  3. Christine Fox3,
  4. Jared Narvid1,
  5. Steven W Hetts1,
  6. Daniel L Cooke1,
  7. Randall T Higashida1,
  8. Christopher F Dowd1,
  9. Hugh McSwain1,
  10. Van V Halbach1
  1. 1Department of Radiology and Biomedical Imaging, University California San Francisco, San Francisco, California, USA
  2. 2Department of Radiology, University of Massachusetts, Worcester, Massachusetts, USA
  3. 3Department of Pediatric Neurology, University California San Francisco, San Francisco, California, USA
  1. Correspondence to Dr Matthew R Amans, Department of Radiology and Biomedical Imaging, 505 Parnassus, Room L371, San Francisco, California, 94143, USA; matthew.amans{at}ucsf.edu

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.

  • Brain
  • Congenital
  • Genetic
  • Pediatrics
  • Vasculitis

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