A rare case report of vascular Ehlers-Danlos syndrome as a pulsatile neck mass with an internal carotid artery aneurysm

Le résumé fourni par la source

Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a rare inherited connective tissue disorder caused by autosomal-dominant pathogenic variants in the COL3A1 gene. Defective type III collagen results in marked fragility of arteries and hollow organs, predisposing affected individuals to spontaneous aneurysms, dissections, and rupture. We report the case of a 35-year-old Bangladeshi woman who presented with a gradually enlarging right-sided pulsatile neck mass accompanied by intermittent headache. Physical examination revealed a soft pulsatile cervical swelling with an audible bruit, thin skin, and joint hypermobility. Doppler ultrasonography followed by computed tomography angiography (CTA) demonstrated a large saccular aneurysm of the right internal carotid artery with additional aneurysmal involvement of the common hepatic and splenic arteries. Based on the characteristic clinical findings and multimodality imaging, a clinical diagnosis of vascular Ehlers-Danlos syndrome was established despite the unavailability of genetic testing. The patient was managed conservatively and referred to a tertiary vascular center for specialist evaluation. This case highlights the value of a systematic, noninvasive imaging approach for the clinical diagnosis of vascular Ehlers-Danlos syndrome in a resource-limited setting. The educational contribution of this report is limited to the diagnostic phase, as long-term follow-up data were unavailable.

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