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      “Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report

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          Abstract

          ACTA2 mutations are recently described genetically defined abnormalities of blood vessels in various organs of the body with specific abnormalities in cerebral vessels in the form of straightening of all cerebral arteries (“twig-like” pattern), stenosis/occlusions, proximal dilatation, and absent “moyamoya” type of collaterals. We describe a one-and-a half year-old girl child who presented with mild motor developmental delay and on neuroimaging showed septo-preoptic holoprosencephaly, diffuse radial polymicrogyria, and pontine hypoplasia along with magnetic resonance angiographic features suggestive of ACTA2 mutation type of cerebral vessels. However, genetic studies revealed no evidence of ACTA2 mutation, indicating that the “twig-like” pattern may not only be a pathognomonic feature of ACTA2 mutations.

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          Author and article information

          Journal
          Interv Neuroradiol
          Interv Neuroradiol
          INE
          spine
          Interventional Neuroradiology
          SAGE Publications (Sage UK: London, England )
          1591-0199
          2385-2011
          28 March 2018
          August 2018
          : 24
          : 4
          : 463-468
          Affiliations
          [1 ]Departments of Radio-Diagnosis & Neurosurgery, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry, India
          [2 ]Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India
          [3 ]Toronto Western Hospital & University Health Network, University of Toronto, Toronto, Canada
          Author notes
          [*]Krishnan Nagarajan, Department of Radio-Diagnosis, JIPMER, Pondicherry 605006, India. Email: lknagarajan1@ 123456gmail.com
          Author information
          http://orcid.org/0000-0003-2113-4377
          Article
          PMC6050896 PMC6050896 6050896 10.1177_1591019918765239
          10.1177/1591019918765239
          6050896
          29591721
          97b48672-4ca8-4b8a-a03f-0c6ed7bc5860
          © The Author(s) 2018
          History
          : 20 February 2018
          : 21 February 2018
          Categories
          Miscellaneous

          embryonic cerebral vasculature,ACTA2-related cerebrovascular disease,septo-preoptic holoprosencephaly,polymicrogyria,magnetic resonance angiography,pontine hypoplasia

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