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April 09, 2013; 80 (15) NeuroImages

Bilateral vertebral artery dissection, agenesis of both ICAs, and connective tissue aberrations

Christina M. Lill, Kristin Günther-Kunkel, Heinrich Hoch, Friedemann Paul, Caspar Grond-Ginsbach, Ingrid Hausser, Frauke Zipp
First published April 8, 2013, DOI: https://doi.org/10.1212/WNL.0b013e31828c2f8e
Christina M. Lill
From the Rhine Main Neuroscience Network (rmn2), Johannes Gutenberg University Center, Department of Neurology (C.M.L., F.Z.), Mainz; Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics (C.M.L.), Berlin; Institute for Neuroradiology, Helios-Klinikum Berlin-Buch (K.G.-K., H.H.), Berlin; Charité–University Medicine Berlin (F.P.), Berlin; Department of Neurology (C.G.-G.), the Department of Dermatology and Electron Microscopy Core Facility (I.H.), University of Heidelberg, Heidelberg, Germany.
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Kristin Günther-Kunkel
From the Rhine Main Neuroscience Network (rmn2), Johannes Gutenberg University Center, Department of Neurology (C.M.L., F.Z.), Mainz; Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics (C.M.L.), Berlin; Institute for Neuroradiology, Helios-Klinikum Berlin-Buch (K.G.-K., H.H.), Berlin; Charité–University Medicine Berlin (F.P.), Berlin; Department of Neurology (C.G.-G.), the Department of Dermatology and Electron Microscopy Core Facility (I.H.), University of Heidelberg, Heidelberg, Germany.
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Heinrich Hoch
From the Rhine Main Neuroscience Network (rmn2), Johannes Gutenberg University Center, Department of Neurology (C.M.L., F.Z.), Mainz; Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics (C.M.L.), Berlin; Institute for Neuroradiology, Helios-Klinikum Berlin-Buch (K.G.-K., H.H.), Berlin; Charité–University Medicine Berlin (F.P.), Berlin; Department of Neurology (C.G.-G.), the Department of Dermatology and Electron Microscopy Core Facility (I.H.), University of Heidelberg, Heidelberg, Germany.
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Friedemann Paul
From the Rhine Main Neuroscience Network (rmn2), Johannes Gutenberg University Center, Department of Neurology (C.M.L., F.Z.), Mainz; Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics (C.M.L.), Berlin; Institute for Neuroradiology, Helios-Klinikum Berlin-Buch (K.G.-K., H.H.), Berlin; Charité–University Medicine Berlin (F.P.), Berlin; Department of Neurology (C.G.-G.), the Department of Dermatology and Electron Microscopy Core Facility (I.H.), University of Heidelberg, Heidelberg, Germany.
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Caspar Grond-Ginsbach
From the Rhine Main Neuroscience Network (rmn2), Johannes Gutenberg University Center, Department of Neurology (C.M.L., F.Z.), Mainz; Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics (C.M.L.), Berlin; Institute for Neuroradiology, Helios-Klinikum Berlin-Buch (K.G.-K., H.H.), Berlin; Charité–University Medicine Berlin (F.P.), Berlin; Department of Neurology (C.G.-G.), the Department of Dermatology and Electron Microscopy Core Facility (I.H.), University of Heidelberg, Heidelberg, Germany.
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Ingrid Hausser
From the Rhine Main Neuroscience Network (rmn2), Johannes Gutenberg University Center, Department of Neurology (C.M.L., F.Z.), Mainz; Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics (C.M.L.), Berlin; Institute for Neuroradiology, Helios-Klinikum Berlin-Buch (K.G.-K., H.H.), Berlin; Charité–University Medicine Berlin (F.P.), Berlin; Department of Neurology (C.G.-G.), the Department of Dermatology and Electron Microscopy Core Facility (I.H.), University of Heidelberg, Heidelberg, Germany.
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Frauke Zipp
From the Rhine Main Neuroscience Network (rmn2), Johannes Gutenberg University Center, Department of Neurology (C.M.L., F.Z.), Mainz; Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics (C.M.L.), Berlin; Institute for Neuroradiology, Helios-Klinikum Berlin-Buch (K.G.-K., H.H.), Berlin; Charité–University Medicine Berlin (F.P.), Berlin; Department of Neurology (C.G.-G.), the Department of Dermatology and Electron Microscopy Core Facility (I.H.), University of Heidelberg, Heidelberg, Germany.
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Citation
Bilateral vertebral artery dissection, agenesis of both ICAs, and connective tissue aberrations
Christina M. Lill, Kristin Günther-Kunkel, Heinrich Hoch, Friedemann Paul, Caspar Grond-Ginsbach, Ingrid Hausser, Frauke Zipp
Neurology Apr 2013, 80 (15) 1442-1443; DOI: 10.1212/WNL.0b013e31828c2f8e

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A 35-year-old woman presented with acute signs of stroke (appendix e-1 on the Neurology® Web site at www.neurology.org). After initial CT with angiography, MRI with time-of-flight angiography confirmed agenesis of both internal carotid arteries (ICAs; figure 1A). It revealed bilateral vertebral artery (VA) dissections and ischemias in both middle artery territories (figure 1, A–E). Skin biopsy microscopy (figure 2) was consistent with ultrastructural connective tissue disease (uCTD), for which no further evidence was found apart from mild hypermobility of the finger joints. The underlying uCTD with structural instability of the arterial walls and the increased blood flow in the vertebrobasilar circulation due to the bilateral ICA agenesis may have promoted VA dissection.

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Figure 1 MRI with time-of-flight angiography shows bilateral internal carotid artery agenesis, vertebral artery dissections, and ischemias in both middle artery territories

Time-of-flight MRI angiography shows absence of both internal carotid arteries (A, upper arrows) and enlarged vertebral arteries (VAs) providing compensatory blood supply (lower arrows). It further reveals bilateral VA dissections, with cervical dissection in segment V2 on the right (B) and in segment V3 on the left (C). Ischemic lesions in both middle artery territories are visible (D, E).

Figure 2
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Figure 2 Electron microscopy of the skin biopsy shows evidence of ultrastructural connective tissue aberrations

Electron microscopy of the skin biopsy (A, magnification ×35,000) shows loosely packed collagen bundles with caliber variability of fibrils (arrows) consistent with an ultrastructural connective tissue syndrome. (B) Historical control for comparison purposes.

Footnotes

  • The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.

  • Supplemental data at www.neurology.org

  • Author contributions: Study concept and design: Drs. Lill and Zipp. Acquisition of data, analysis and interpretation: Drs. Lill, Günther-Kunkel, Hoch, Paul, Grond-Ginsbach, Hausser, and Zipp. Writing of first manuscript draft: Dr. Lill. Critical revision of the manuscript: Drs. Hoch, Hausser, and Zipp.

  • Study funding: No targeted funding reported.

  • Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.

  • © 2013 American Academy of Neurology

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