Clinical features of Susac syndrome

Introduction: Susac syndrome is an autoimmune microangiopathy characterized by encephalopathy, occlusion of the branches of the retinal artery and hearing loss. Objective: To collect cases, established theories and obtain updated knowledge about Susac syndrome, its diagnosis and treatment. Methods: Between 2017 and 2024, data on encephalopathy, retinal diseases, vascular diseases, sensorineural hearing loss and Susac syndrome were reviewed in English and Spanish; systematic reviews, case reports and meta-analyses were included, from the Scopus, SciELO, PubMed, Cochrane and Lilacs databases. Development: Until 2021, 450 cases of Susac syndrome have been reported, with an estimated 0.148 cases per 100,000 inhabitants and a female predominance. Headache and encephalopathy are the most frequent initial manifestations. Ophthalmologic evaluation is important because it contributes to the diagnosis. Magnetic resonance imaging shows multifocal, round, snowball-like, T2 hyperintense lesions in the central part of the corpus callosum. Its main differential diagnoses are migraine and multiple sclerosis. Conclusions: The onset of Susac syndrome, with encephalopathy, variability of presentation and broad differential diagnosis, makes its identification more complex. The etiopathogenesis is not fully elucidated. The presence of hyperfluorescence in the retinal arteries and hyperintense lesions in the corpus callosum confirm this, even without the presence of the imaging or clinical triad. Early diagnosis and adequate treatment favor the prognosis.