Cerebral arteriopathy associated with Arg179His ACTA2 mutation

• Published in: BMJ case reports Vol. 2013; p. bcr2013010997
• Main 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
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 29.11.2013; BMJ Publishing Group
• Series: Case Report
• Subjects: Actins - genetics; Aneurysms; Angiography, Digital Subtraction; Bladder; Carotid arteries; Cerebral Arteries - diagnostic imaging; Cerebral Arteries - pathology; Child, Preschool; Congenital diseases; Diagnosis, Differential; Disease; Female; Humans; Ischemic Stroke; Magnetic Resonance Angiography; Medical imaging; Mutation; Mydriasis - congenital; Patients; Pediatrics; Phenotype; Smooth muscle; Stroke - diagnosis; Stroke - genetics; Veins & arteries; X-rays; Genetic; Brain; Pediatrics; Vasculitis; Congenital
• DOI: 10.1136/bcr-2013-010997
• ISSN: 1757-790X

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.