Cogan's syndrome with recurrent carotid and aortic aneurysms: a potentially fatal disorder mimicking Marfan syndrome

Abstract

Cogan's syndrome (CS) is a rare multisystemic disease characterized by vestibuloauditory dysfunction, inflammatory eye disease and vasculitis. Aortic aneurysms due to aortitis are under-recognized in CS, and are potentially fatal, with two of eight reported cases dying from aneurysm/arterial rupture. The presence of aneurysms was not recognized antemortem in both cases, highlighting the importance of early detection to prevent this potentially fatal outcome. We report a 17-year-old Chinese male with recurrent carotid and aortic aneurysms, bilateral sensorineural hearing loss, and recurrent scleritis who was initially thought to have Marfan syndrome. The diagnosis of CS was made 4.5 years after initial presentation, during which time recurrent aneurysms due to active aortitis (with aneurysmal rupture on one occasion) necessitated four surgical procedures. Treatment with methotrexate and corticosteroids resulted in no recurrence of aneurysms over 2 years of follow-up. This case illustrates (i) the challenges in diagnosing CS when various manifestations occur separately over a relatively long time period, (ii) that detection of aortic aneurysms in young patients, especially if recurrent, should prompt investigations for vasculitis/aortitis to prevent potentially fatal aneurysm rupture, and (iii) that methotrexate and high-dose corticosteroids may be effective in preventing development of further aneurysms in CS patients.