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Vol 23. no 1
March 2018

Susac syndrome – diagnostic difficulties (summary)
Magdalena Włoch-Targońska, Beata Dubiel-Braszczok, Przemysław Kotyla
Susac’s syndrome (RED-M, SICRET, retinocochlearcerebral vasculopathy) is a rare autoimmune disorder that belongs to systemic connective tissue diseases. The syndrome mainly affects young women aged 21 to 41 years; the female to male ratio is 3:1. The exact cause of the disease is still unknown although it has been hypothesized that some infectious or immune factors can contribute to its development (some patients have low-titer antinuclear antibody or rheumatoid factor tests; remission has been observed in patients receiving immunosuppressive therapy). Susac’s syndrome commonly starts with central nervous system dysfunction followed by the triad of subacute encephalopathy, vision disorders and hearing loss. These signs do not necessarily develop simultaneously; furthermore, they may vary in severity. The diagnosis is typically made based on clinical symptoms, detailed ophthalmic examination and MRI findings. Due to its rare occurrence and unknown pathogenesis, no consistent recommendations have been developed regarding the treatment of Susac’s syndrome. The disease is frequently self-limited and spontaneously remits after 2 to 4 years. The therapies include corticosteroids, immunosuppression (cyclophosphamide, azathioprine, mycophenylate mofetil, methotrexate, cyclosporin A), intravenous immunoglobulin, antiplatelet antithrombotic agents, hyperbaric oxygen and plasmapheresis. In patients who are unresponsive to standard therapy, infliximab or rituximab might be added. Numerous experts believe antiplatelet medication as well as vasorelaxants and vasodilators should be used as adjuvant treatment. Patients with severe hearing loss may benefit from cochlear implants. Intratympanic injections of dexamethasone have been administered in the acute phase of hearing loss and tinnitus. Treatment of migraine-like headaches includes naratriptan and topiramate while methylprednisolone pulse therapy is used to relieve generalized headaches.
Keywords: Susac’s syndrome, branch retinal artery occlusions, sensorineural hearing loss, encephalopathy
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