Vascular Ehlers-Danlos Syndrome Diagnosed after Cerebral Infarction with a Subarachnoid Hemorrhage.

Tomohisa Yamaguchi, Masamichi Ikawa, Kazumi Ikeda, Ayumu Katsuki, Asako Ueno, Yasuhiro Nishiyama

Abstract readCase Reports

In one paragraph

Article in Internal medicine (Tokyo, Japan), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Tomohisa YamaguchiDepartment of Neurology, Faculty of Medical Sciences, University of Fukui, Japan.

Masamichi IkawaDepartment of Neurology, Faculty of Medical Sciences, University of Fukui, Japan.

Kazumi IkedaDepartment of Medical Genetics, Faculty of Medical Sciences, University of Fukui, Japan.

Ayumu KatsukiDepartment of Neurology, Faculty of Medical Sciences, University of Fukui, Japan.

Asako UenoDepartment of Neurology, Faculty of Medical Sciences, University of Fukui, Japan.

Yasuhiro NishiyamaDepartment of Neurology, Faculty of Medical Sciences, University of Fukui, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by either an arterial rupture or organ perforation, which is challenging to diagnose prior to the onset of major complications. A 46-year-old male presented with sudden severe headache and left hemiplegia. Magnetic resonance imaging (MRI) revealed simultaneous cerebral infarction and subarachnoid hemorrhage (SAH) due to middle cerebral artery (MCA) dissection. Genetic testing confirmed vEDS through identification of a pathogenic COL3A1 variant (c.2438G>A). Clinicians should consider vEDS in young patients demonstrating stroke with arterial dissection, especially in the presence of distinctive facial features or a relevant family history, even if the diagnostic criteria are not fully met.

Indexed as

Cerebral InfarctionEhlers-Danlos SyndromeEhlers-Danlos Syndrome, Type IVSubarachnoid HemorrhageCollagen Type IIIHumansMagnetic Resonance ImagingMaleMiddle AgedCOL3A1 protein, humanCollagen Type IIIcerebral infarctiongenetic analysissubarachnoid hemorrhagevascular Ehlers-Danlos syndrome

Identifiers

PMID42091551

DOI10.2169/internalmedicine.6033-25

PMCPMC13222694

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