Susac syndrome: A scoping review.

ABSTRACT

Susac syndrome is a rare disease characterized by an inflammatory microangiopathy limited to the brain, eye, and ear vessels. It mainly affects young women. Although the pathophysiology is not fully elucidated, recent advances favour a primitive vasculitis affecting the cerebral, retinal and cochlear small vessels. Diagnosis relies on the recognition of the triad including 1/subacute encephalopathy with unusual headache and pseudo-psychiatric features associated with multifocal ischemic white matter, grey matter nuclei and specifically corpus callosum lesions along with leptomeningeal enhancement on brain MRI, 2/ophthalmological involvement that may be pauci-symptomatic, with bilateral occlusions of the branches of the central artery of the retina at fundoscopy and arterial wall hyperfluorescence on fluorescein angiography, 3/cochleo-vestibular damage with neurosensorial hearing loss predominating on low frequencies. The full triad may not be present at diagnosis but should be sought repeatedly. Relapses are frequent during an active period lasting approximately 2 years. Eventually, the disease resolves but isolated retinal arterial wall hyperfluorescence without new occlusions may recur, which should not result in treatment intensification. First-line treatment mostly consists of high dose corticosteroids. In refractory patients or in case of relapse, immunomodulatory molecules such as intravenous immunoglobulins or immunosuppressive drugs such as mycophenolate mofetil, cyclophosphamide or rituximab should be started. Sequelae -mostly hearing loss and cognitive impairment- are usually mild but remain frequent in these young patients.