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Chapter 5.1 - Chapter

from 5 - Hereditary and Genetic Causes of Stroke

Published online by Cambridge University Press:  06 October 2022

Anita Arsovska
Edited by
Derya Uluduz
Anita Arsovska
Affiliation:
University of Ss Cyril and Methodius
Derya Uluduz
Affiliation:
Istanbul Üniversitesi
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Summary

Marfan syndrome is a genetically inherited systemic disease of connective tissue, usually characterized by skeletal, cardiovascular and ocular involvement. We present a 44 years-old male, with heart valve and lens subluxation surgery, presented to the outpatient clinic with complaint of weakness on the left side. He was receiving anticoagulant treatment. His parents were second-degree relatives, and his 16-years-old son had aortic valve regurgitation and lens subluxation. The patient was extremely tall and thin with typical musculoskeletal features of Marfan syndrome. These included pectus excavatus deformity, ulnar deviation in both hands, as well as swan neck deformity, long fingers, joint hypermobility, and right-sided scoliosis. Neurological examination revealed irregular pupil on the right, left-sided hemiparesis, hyperreflexia, and piramidal signs on the left side. Brain magnetic resonance imaging showed infarction in the temporo-parietal region of the right hemisphere

Keywords

Marfan syndromestrokefibrillin-1 (FBN1) gene defectconnective tissue disordersGhent criteria
Type
Chapter
Information
Rare Causes of Stroke
A Handbook
 , pp. 206 - 211
Publisher: Cambridge University Press
Print publication year: 2022

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References

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  • Chapter
  • Edited by Derya Uluduz, Istanbul Üniversitesi
  • Anita Arsovska
  • Book: Rare Causes of Stroke
  • Online publication: 06 October 2022
  • Chapter DOI: https://doi.org/10.1017/9781108902793.036
Available formats
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  • Chapter
  • Edited by Derya Uluduz, Istanbul Üniversitesi
  • Anita Arsovska
  • Book: Rare Causes of Stroke
  • Online publication: 06 October 2022
  • Chapter DOI: https://doi.org/10.1017/9781108902793.036
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Chapter
  • Edited by Derya Uluduz, Istanbul Üniversitesi
  • Anita Arsovska
  • Book: Rare Causes of Stroke
  • Online publication: 06 October 2022
  • Chapter DOI: https://doi.org/10.1017/9781108902793.036
Available formats
×