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Vol. 4. Núm. 4.
(Octubre - Diciembre 2021)
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Vol. 4. Núm. 4.
(Octubre - Diciembre 2021)
Images in medicine
Open Access
Bilateral carotid dissection as a first manifestation of Ehlers-Danlos disease
Disección carotídea bilateral como primera manifestación de la enfermedad de ehlers-danlos
Visitas
...
Jose Fernández-Ferroa,
Autor para correspondencia
, Dolores Joya Seijob, Natalia Barbero Bordalloc
a Department of Neurology, Hospital Universitario Rey Juan Carlos, Mostoles, Instituto de Investigaciones Sanitarias – Fundación Jiménez Díaz, Madrid, Spain
b Department of Internal Medicine, Hospital Universitario Rey Juan Carlos, Mostoles, Spain
c Department of Neurology, Hospital Universitario Rey Juan Carlos, Mostoles, Spain
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Clinical case

A male in his thirties presented to the emergency room referring a minute-long sudden-onset episode of inability to talk, lost look and paresthesia in the left upper extremity. He admitted a persistent harsh cough the previous days as sequel of a flu syndrome, but any relevant previous history. He showed two acute right hemispheric infarctions on MRI (arrows in panel A -DWI- and B -ADC map-). Angio-CT showed a typical beak sign in the right internal carotid artery (ICA) together with an abrupt narrowing on the left ICA immediately after inception with a distal pseudoaneurism; both consistent with dissections (arrows in panel C). A full cardiological and systemic work-up was negative. The genetic analysis performed in the following weeks revealed a pathogenic mutation in Exon 5 of the Col3A1 gen, consistent with Ehlers-Danlos type IV disease. No short or long-term recurrence was registered more than three years later.

Up to 20% of sporadic carotid artery diseases affect more than one vessel at onset or have early recurrence (8–12 weeks), and up to 1% may have an underlying genetic disease. The unique point comes from how the event constituted the clinical debut of an Ehlers-Danlos disease (Fig. 1).

Fig. 1
(0,32MB).
Copyright © 2021. The Author(s)
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