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Ehlers-Danlos Syndrome Presenting as Severe Headache in a Young Adult

Sara R Alcorn, Marie-Adele Sorel, Stephan Auerbach

    Radiology Case Reports
    |June 16, 2016
    PubMed

    Insights

    Ehlers-Danlos, type IV, a genetic connective tissue disorder, can manifest with severe vascular abnormalities, including aneurysms and dissections. This case highlights the importance of considering genetic testing in young patients with unexplained vascular issues.

    Area of Science:

    • Vascular Surgery
    • Genetics
    • Neurology

    Background:

    • A 27-year-old male with a family history of abdominal aortic aneurysm presented with severe headache and hypertension.
    • Initial evaluation revealed a right internal carotid artery aneurysm.

    Observation:

    • CT and MRI demonstrated multiple vascular abnormalities in the head and neck.
    • Findings included possible dissection or pseudoaneurysm and multifocal arterial narrowing and dilatation.

    Findings:

    • Genetic testing confirmed Ehlers-Danlos, type IV (vascular type).
    • This genetic disorder predisposes individuals to arterial and venous dissections and aneurysms.

    Implications:

    • Highlights the critical role of genetic testing in diagnosing vascular abnormalities in young adults.
    • Emphasizes the need for early recognition and management of Ehlers-Danlos, type IV to prevent life-threatening vascular events.

    Keywords:
    CT, computed tomographyCTA, computed tomographic angiographyMRA, Magnetic resonance angiographyMRI, magnetic resonance imaging

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