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Stroke in vascular Ehlers-Danlos syndrome
  1. Rebecca Ranzani Martins1,
  2. Mauricio Leonardo da Silva Paiva2,
  3. Weverton Carlos da Silva Teixeira1,
  4. Rachel Sayuri Honjo Kawahira2,
  5. Fernando Freua1,
  6. Matheus Augusto Araujo Castro2,
  7. Chong Ae Kim2,
  8. Fernando Kok1
  1. 1Department of Neurology, Universidade de Sao Paulo - Hospital das Clinicas, Sao Paulo, Brazil
  2. 2Department of Medical Genetics, Universidade de Sao Paulo - Hospital das Clinicas, Sao Paulo, Brazil
  1. Correspondence to Dr Rebecca Ranzani Martins, Neurology, Universidade de Sao Paulo - Hospital das Clinicas, Sao Paulo, 05403-010, Brazil; rebecca.rmartins{at}hc.fm.usp.br

http://dx.doi.org/10.1136/pn-2023-003753

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    Case report

    A 17-year-old boy had been admitted with an acute left occipital stroke relating to a recent right extracranial vertebral artery dissection. Arterial angiography identified internal carotid artery fibrodysplasia also on the left side (figure 1A). He had been started on aspirin 100 mg daily for stroke prevention.

    Figure 1

    (A) Carotid digital subtraction angiography showing left internal carotid artery fibrodysplasia, giving focal smooth narrowing (arrow). (B) MR scan of the left internal carotid artery (3D reconstruction) showing a dissecting pseudoaneurysm with false lumen (arrow) and true lumen (arrowhead). (C) CT cerebral angiogram of the neck (sagittal plane) showing that the internal carotid artery flow-diverting stent (arrowhead) has migrated and is partially thrombosed (C1, arrow), with complete thrombosis inside (C2, arrowhead) and around it (C2, arrow) and then with partial reperfusion distally (C3, arrow). (D) MR scan of the brain (diffusion-weighted image) of left middle cerebral artery territory ischaemic stroke (arrow). (E) Multiple nodular (arrowhead) and cavitary (arrows) pulmonary lesions. (F) Distinctive facial features.

    Four months later, he developed transient dizziness, blurred vision and right leg weakness. MR angiogram showed a large pseudoaneurysm …

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    Footnotes

    • Contributors RRM, MLdSP and WCdST: Conception of the work, data collection and drafting of the article. RSHK, FF, MAAC, CAK and FK: Critical revision of the article.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned. Externally peer reviewed by Fleur van Dijk, London, UK, and Martin Punter, Otago, Australia.

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