Intracerebral Hemorrhage in a Middle-Aged Male With Classical Ehlers-Danlos Syndrome in the Absence of Macrovascular Lesions: A Case Report
Abstract
Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder characterized by tissue fragility, joint hypermobility, and variable vascular involvement. Although intracerebral hemorrhage (ICH) is classically associated with vascular EDS, emerging evidence suggests that cerebrovascular complications may occur across multiple EDS subtypes, even in the absence of overt vascular malformations. We report a 39-year-old Saudi male with genetically confirmed classical Ehlers-Danlos syndrome (cEDS) associated with COL5A1 variants who presented with acute decreased level of consciousness, expressive aphasia, and mild right-sided weakness. Brain computed tomography demonstrated a left hemispheric ICH. Given the patient's young age and underlying connective tissue disorder, extensive vascular evaluation was performed. Digital subtraction angiography showed no evidence of aneurysm, arteriovenous malformation, dural fistula, or cerebral venous thrombosis. Subsequent magnetic resonance imaging revealed pial meningeal enhancement and engorged cortical vessels adjacent to the hemorrhage, findings suggestive of vascular changes likely related to underlying vascular fragility, with no direct evidence of venous leakage. The patient was managed conservatively with multidisciplinary care and rehabilitation, resulting in gradual neurological improvement and radiological stability. This case highlights that spontaneous ICH can occur in patients with EDS even in the absence of…
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