Revista de Medicina e Cirurgia Vascular

Abstrato

Bilateral Aneurysm of the Internal Jugular Vein Associated with Menkes Disease: Diagnosis, Risk Factors and Management

Bonnet JB*, Kuster A, Barth M, Moizard MP, Hauet Q, Gautier A, Piloquet H and Pistorius MA

Menkes disease is a rare genetic disease due to an abnormality in copper metabolism. Clinical picture mainly includes neurological and cutaneous symptoms, and may present vascular complications. We report two cases of bilateral aneurysms of the internal jugular vein associated with Menkes disease, which were discovered by the appearance of cervical swellings a few months after birth. Diagnosis was set by Doppler ultrasonography and no specific treatment was decided for both cases. A review of literature then presents the diagnosis method, risk factors and management of aneurysms of the internal jugular vein in Menkes disease.