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A young woman presented at our clinic with sudden visual loss in the right eye, recurrent vertigo, and right-sided tinnitus. We performed a complete ophthalmological evaluation. This revealed effects of the condition on the small arterioles of the peripheral retina. Susac syndrome is characterized by the clinical triad of retinal arteriolar occlusions, cochleovestibular manifestations, and encephalopathy (which can be identified by neuroimaging abnormalities). Early diagnosis and immunosuppressive therapy improved the patient's visual acuity and the remission of her other symptoms. Hemi-central retinal artery occlusion is an atypical neuro-ophthalmological finding in this disease. However, its identification as a sign of Susac syndrome may facilitate timely diagnosis and accurate treatment.

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BACKGROUND: Susac syndrome (SS) is a rare endotheliopathy with an estimated prevalence of 0.14-0.024 per 100,000. It is an important differential diagnosis in demyelinating disorders. There are few case series and no large randomized controlled trials, and most reports come from developed countries. We report six cases of SS in three centers in Brazil and discuss management challenges in emergent countries. METHODS: This is a retrospective case series of patients diagnosed with SS in three medical centers in Brazil between April 2018 and July 2021. The European Susac consortium (EuSaC) criteria were used for diagnosis of SS. Demographic data and clinical interventions were described and outcomes were assessed subjectively and by applying the modified Rankin Scale (mRS) on last follow-up. RESULTS: Six patients were diagnosed with SS (3 males, 3 females). Mean age at presentation was 36 years (range 17 to 54). The most common initial symptom was confusion, followed by visual impairment and hearing loss. Characteristic snowball lesions on magnetic resonance imaging (MRI) were present in four patients (66%). Retinal artery abnormalities were present in half (3/6) of patients, and sensorineural hearing loss was present in four patients (66%). Outcome was favorable (mRS ≤ 2) in five patients (86%). Patients treated early had a more favorable outcome. CONCLUSION: Emergent countries face challenges in the diagnosis and management of patients with SS, such as access to advanced tests (fluorescein angiography, serial MRI) and treatment drugs (rituximab, mycophenolate). Further research should consider particularities of patients with SS in emergent countries.

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We report a case of Susac syndrome after SARS-CoV-2 infection and subsequent vaccination that presented with meningitis and retinal microembolisation in the form of paracentral acute middle maculopathy (PAMM). After presenting with headache, fever and myalgia followed by scotomata, a woman in her 50s was hospitalised for meningitis; she had had mild COVID-19 infection 2 months prior to admission, having received the first vaccine dose 1 month prior to the neurological manifestation. Eye fundus examination and optical coherence tomography were suggestive of PAMM. D-dimer levels and erythrocyte sedimentation rate were elevated. Before infectious investigation results were available, she was started on empirical antibiotic and antiviral treatment. Having ruled out infectious causes, she was started on high-dose prednisolone. After 1 month, there was partial resolution of retinal lesions. This case highlights that exposure to SARS-CoV-2 antigen may be related to this rare syndrome; treatment with steroids may improve central and retinal impairment.

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Susac syndrome is a disorder thought to be mediated by an autoimmune response towards endothelial cells, leading to a characteristic clinical triad of encephalopathy, visual disturbances due to branch arterial occlusions and sensorineural hearing impairment. Although it is a rare disease, three reasons make it important. First, given its variable presentation, Susac syndrome is underdiagnosed. Second, it is considered an important differential diagnosis in different neurological, psychiatric, ophthalmological and hearing disorders, and consequently is frequently misdiagnosed. Third, in many cases, Susac syndrome is diagnosed and treated late, with significant irreversible sequelae including dementia, blindness and hearing loss. Neuropathology findings derived from both Susac syndrome patient tissue and novel transgenic mouse models indicate cytotoxic CD8+ T cells adhere to microvessels, inducing endothelial cell swelling, vascular narrowing and occlusion, causing microinfarcts. Anti-endothelial cell antibodies are present in serum in 25% of Susac syndrome patients, but it is unclear whether they are aetiologically related to the disease, or an epiphenomenon. The clinical triad comprising encephalopathy, branch arterial occlusions, and sensorineural hearing impairment is considered pathognomonic, although great variability is found in presentation and natural course of disease. At first evaluation, only 13-30% of patients exhibit the full clinical triad, making diagnosis difficult. Retinal fluorescein angiography, optic coherence tomography, MRI and tonal audiometry are helpful methods for diagnosing and monitoring disease activity during treatment. By contrast, there are no reliable objective immune markers to monitor disease activity. Immunosuppression is the current treatment, with high-dose corticosteroid therapy as the mainstay, but additional therapies such as intravenous immunoglobulins, cyclophosphamide, rituximab and mycophenolate mofetil are often necessary, because the disease can be devastating, causing irreversible organ damage. Unfortunately, low rates of disease, variability in presentation and paucity of objective biomarkers make prospective controlled clinical trials for Susac syndrome treatment difficult. Current immunosuppressive treatments are therefore based on empirical evidence, mainly from retrospective case series and expert opinion. In this review, we draw attention to the need to take consider Susac syndrome in the differential diagnosis of different neurological, psychiatric, ophthalmological and hearing disorders. Furthermore, we summarize our current knowledge of this syndrome, in reference to its pathophysiology, diagnosis and management, emphasizing the need for prospective and controlled studies that allow a better therapeutic approach.

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RESUMEN El síndrome de Susac es una entidad clínica poco frecuente, posiblemente mediada por un proceso autoinmune; la tríada clásica se compone de retinopatía, disminución en la agudeza auditiva y síntomas neuropsiquiátricos (encefalopatía). Hay pocos casos descritos con sintomatología neuropsiquiátrica como la sintomatología principal. Presentamos un caso de síndrome de Susac, que corresponde a una mujer de 34 arios, con predominio de sintomatologia neuropsiquiátrica, caracterizada por un síndrome de Klüver-Bucy parcial, un síndrome apático, risa y llanto patológico y alteraciones cognitivas de predominio atencional; dichos síntomas mejoraron cualitativamente con el uso de terapia inmunológica. Este caso revela la importancia de las manifestaciones neuropsiquiátricas como presentación clínica en pacientes con entidades neurológicas.

ABSTRACT Susac syndrome is a rare clinical condition, possibly mediated by an autoimmune process; the classic triad is composed of retinopathy, decreased hearing acuity and neuropsychiatric symptoms (encephalopathy). There are few cases reported with neuropsychiatric symptoms as the main manifestation. We present a case of Susac syndrome in a 34-year-old female with a predominance of neuropsychiatric symptoms, characterised by partial Klüver-Bucy syndrome, apathy syndrome, pathological laughter and crying, and cognitive dysfunction predominantly affecting attention, which showed a qualitative improvement with the use of immunological therapy. This case report highlights the importance of neuropsychiatric manifestations as clinical presentation in patients with neurological conditions.

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El síndrome de Susac es una entidad rara, descrito como una tríada clínica de encefalopatía, sordera neurosensorial y trastorno visual por oclusión de ramas de arteria retiniana, aunque no siempre se presenta como tríada, se carac- teriza por evolución prolongada y no necesariamente secuencial ni correlacionada con la presentación clínica, que es variable, por lo que el diagnóstico puede ser tardío e influenciar el pronóstico. Es más frecuente en mujeres. La patogénesis se considera como una enfermedad microangiopática autoinmune a nivel cerebral, retiniana y coclear. Descripción del caso clínico: Se presenta caso de paciente masculino de 36 años, con cuadro de cefalea, cambios conductuales, déficit motor y sensitivo de hemicuerpo derecho, seguido por alteraciones visuales y disminución de per- cepción auditiva. Se realiza diagnóstico con imagen de resonancia magnética cerebral con lesiones redondeadas hiperintensas en cuerpo calloso y regiones cortico-subcorticales; audiometría con sordera neurosensorial; y angiografía con fluoresceína de retina con obstrucción de arteria retiniana, confirmando este último recur- so el diagnóstico de síndrome de Susac. Conclusiones: Esta es una enfermedad probablemente subdiagnosticada que debe ser contemplada en el diagnóstico diferencial de enfermedades vas- culares cerebrales o desmielinizantes e implica importantes com- plicaciones y secuela sobre el paciente, el diagnóstico temprano influencia el pronóstico, por lo que debe establecerse tratamiento agresivo y temprano a fin de minimizar daños...(AU)

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