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Background: Susac syndrome is a rare autoimmune endotheliopathy that affects the central nervous system, retina, and inner ear, characterized by encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss. Due to the heterogeneity of its presentation, early diagnosis, and treatment remain challenging., Objective/methods: To evaluate the clinical outcomes and radiological responses in two patients with Susac syndrome treated with natalizumab in an off-label therapeutic approach, clinical assessments and serial magnetic resonance imaging (MRI) were performed over a follow-up period of up to 22 months to monitor disease progression and treatment response., Results: Both patients demonstrated clinical stabilization with reduced MRI and retinal angiography disease activity. Treatment was well tolerated, and no significant adverse events were reported during observation., Discussion: Natalizumab may constitute a potential off-label therapeutic for Susac syndrome. Further studies are warranted to assess its efficacy and safety in this rare condition., (© 2025 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

Background: Susac syndrome is a rare disease affecting mainly young women and is characterised by an occlusive microvessel disease limited to the brain, retina, and inner ear. No randomised controlled trial has been published or declared as ongoing to investigate treatments for Susac syndrome. We aimed to compare the effect of glucocorticoids given alone or in combination with immunosuppressive agents or intravenous immunoglobulin for the prevention of relapse in patients with Susac syndrome., Methods: The Phenotypic and Etiological Characterization of Susac Syndrome-National Clinical Research Hospital Program study is a prospective national cohort study that started enrolling on Nov 29, 2011, and included all consecutive patients aged 18 years or older with Susac syndrome who were referred to the French reference centre (Department of Internal Medicine, Bichat-Claude Bernard Hospital, Paris). Susac syndrome was defined by either the triad of encephalopathy with typical brain MRI abnormalities, cochleo-vestibular damage, and multiple occlusions of retinal central artery branches, or at least two of the three criteria without any alternative diagnosis. Collected data included fundoscopy, retinal angiography, audiometry, cerebrospinal fluid, brain MRI, and treatment received at diagnosis; months 1, 3, 6, and 12 after diagnosis; and then annually for 5 years or in the case of a relapse. The primary outcome was defined as the first relapse occurring within a 36-month follow-up period from the first day of treatment, characterised by new clinical symptoms or signs, and new abnormalities observed on retinal angiography, audiometry, or brain MRI, necessitating treatment intensification. There was no involvement of people with lived experience at any stage. The study is registered at ClinicalTrials.gov, NCT01481662., Findings: Between Nov 29, 2011, and Dec 2, 2022, 64 patients were included in the study, with a mean age at diagnosis of 35 years (SD 11); 41 (64%) were women and 23 (36%) were men. At diagnosis, 60 patients received glucocorticoids; 40 (63%) of 64 patients received glucocorticoids alone as a first-line therapy while 20 (31%) received glucocorticoids in combination with immunosuppressive agents or intravenous immunoglobulin. Overall, 46 (72%) of 64 patients had a first relapse with a median relapse-free survival time of 3·96 months (95% CI 2·24-16·07). Comparison of relapse-free survival showed no significant difference between the two treatment strategies (hazard ratio [HR] 1·11 [95% CI 0·56-2·17], p=0·76), compared with glucocorticoids alone as the reference group. In patients who first relapsed while treated with glucocorticoids alone, there was no significant difference in second relapse-free survival between those who did or did not receive immunosuppressive agents or intravenous immunoglobulin as a second-line therapy (HR 2·66 [95% CI 0·63-11·18], p=0·18)., Interpretation: The combination of glucocorticoids with immunosuppressive agents or intravenous immunoglobulin did not appear to reduce the risk of Susac syndrome relapse compared with glucocorticoids alone. Our findings did not support the systematic use of immunosuppressive agents in Susac syndrome., Funding: French Ministry of Health., Competing Interests: Declaration of interests We declare no competing interests., (Copyright © 2024 Elsevier Ltd. All rights reserved, including those for text and data mining, AI training, and similar technologies.)

A 40-year-old man who attended the emergency department with a scotoma in right eye. He mentioned hearing difficulties and headache for months and he had sensory and motor deficits in the previous days. In the ophthalmic examination, the right eye had areas of arterial occlusion. MRI revealed hyperintense lesions. The patient was diagnosed with Susac syndrome. He was treated with systemic steroids, however, it was not enough to control the condition. Rituximab and intravenous immunoglobulins were added, which allowed the improvement of neurological symptoms, but the alteration of the visual field and the hearing defect did not recover. Early diagnosis of this pathology is essential, since delaying treatment can cause irreversible consequences. Sometimes it is difficult given the wide variety of symptoms and the course of the disease. Ocular manifestations may raise suspicion when the general symptoms are nonspecific., (Copyright © 2024 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.)

Background: To report ophthalmological outcomes and treatment regimen in patients with Susac syndrome., Methods: This is a retrospective analysis of patients with Susac syndrome treated between November 2015 and March 2023. Multimodal imaging findings, ophthalmic examination data, information on neurological and sensorineural involvement, and therapeutic regimen were reviewed. Visual acuity was recorded as the logarithm of the minimum angle of resolution (logMAR). Ophthalmological manifestations and disease severity were assessed using the previously described clinical activity score (CAS)., Results: Ten patients with Susac syndrome m : f = 5 : 5 were identified. The mean follow-up time was 31.2 ± 23.3 months (range 1 to 78 months). The mean age was 41.4 ± 13.8 years (range 21 to 59 years). At baseline, corrected distance visual acuity (CDVA) was 0.03 ± 0.08 logMAR. At the last follow-up, CDVA improved to 0.00 ± 0.03 logMAR (p = 0.029). Three of 20 eyes showed an improvement of 5 letters, while no loss of visual acuity was recorded during the follow-up time. Baseline CAS was 10.65 ± 12.69, and CAS at the last follow-up was 5.15 ± 5.49 (p = 0.068). Except for one patient, all were initially treated with intravenous (i. v.) steroids and subsequent oral tapering. Depending on the treatment response, cyclophosphamide (n = 4), i. v. immunoglobulins (IVIGs) (n = 4), anti-CD20 antibodies (n = 3), or plasmapheresis (n = 1) were applied. All patients under treatment for more than 1 month (n = 9) showed improvement in CAS and CDVA., Conclusion: Susac syndrome is a rare autoimmune vascular endotheliopathy. Treatment of Susac syndrome appears to result in improving CAS and CDVA. The majority of patients, in addition to the systemic steroids, required systemic immunosuppressive agents. Interdisciplinary communication is crucial to reduce the time to diagnosis and initiation of therapy in patients with Susac syndrome., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Susac syndrome is a rare autoimmune vasculopathy involving the small precapillary arterioles of the brain, retina, and inner ear. It is characterized by a triad of symptoms: encephalopathy, visual disturbances due to obstruction of retinal artery branches, and sensorineural hearing loss. The study aimed to review the current medical knowledge on Susac syndrome and present our clinical experience regarding this disease entity. The paper also presents a case of a 25-year-old patient who was diagnosed with Susac's syndrome based on the clinical picture and the results of additional tests. This syndrome should be considered in the differential diagnosis of multiple sclerosis and other multifocal lesions of the central nervous system because early diagnosis of the disease and immunosuppressive treatment significantly alleviates its course and improves the prognosis.

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., (Copyright © 2022 Elsevier B.V. All rights reserved.)

A 38-year-old man who attended the emergency department with headache, accompanied by vomiting, bradypsychia and gait instability, for which he was admitted to Neurology for study. During his admission, he began to present bilateral hearing loss and blurred vision in the left eye, with areas of arterial occlusion and hyperfluorescence of the arterial wall being observed in the ophthalmological examination. As a result, he was diagnosed with Susac syndrome. He was treated with systemic corticosteroids, as well as with rituximab and subsequently, with intravenous immunoglobulins and mycophenolate mofetil. The patient managed to preserve visual acuity, with gait instability and bilateral hearing loss as sequelae. Early diagnosis of Susac syndrome is important, because a delay in the start of treatment can lead to irreversible sequelae such as deafness, blindness or neurological involvement., (Copyright © 2021 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.)

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., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background: In this case, we reported the pseudobulbar affect (PBA) in a patient with Susac's syndrome-a rare condition that was caused by a rare syndrome. Previous case reports of Susac syndrome described psychiatric symptoms such as emotional disturbances or personality changes. Only a few case reports have reported psychiatric disorders in patients with Susac's syndrome. There were no reported cases of Susac syndrome with PBA as an initial presentation., Case Presentation: Our patient was 56 years old and presented with involuntary crying, left-sided headache, left-sided hearing loss, and tinnitus. Brain MRI showed numerous areas of restricted diffusion and enhancement involving the corpus callosum, bilateral hemispheres, and brainstem. Ophthalmological evaluation showed bilateral branch retinal artery occlusion. She was diagnosed with Susac's syndrome and PBA. She was treated with cyclophosphamide and dextromethorphan hydrobromide/quinidine sulfate with excellent recovery. This is a 2-year clinical course., Discussion and Conclusions: Recognition of the clinical presentation of Susac's syndrome and PBA with early diagnosis and treatment are the keys to preventing further disability and impact on patients and their families., (© 2022. The Author(s).)

Background: Susac syndrome (SS) is an autoimmune disorder that involves the eyes, the brain, and the ears. It is a rare cause of recurrent branch retinal artery occlusion. The purpose of this study was to report cases of SS, highlighting the clinical presentations, therapeutic options, and their outcome., Patients and Methods: Retrospective case series of patients seen at our institution for SS between 2005 and 2020. Demographics, clinical characteristics, treatment, and outcome were studied., Results: Four patients (3 females, mean age 29 years old) were included in the study. According to the recently revised diagnostic criteria, three patients had definite and one patient had probable SS (distinctive ophthalmological and brain involvement without ear involvement). Initial visual acuity (VA) was normal in all eyes, but two patients had unilateral visual field impairment. Gass plaques (defined as yellow-white plaques found in the arteriolar wall away from arterial bifurcations) were observed on fundus examination in all patients. Fluorescein angiography revealed arteriolar wall hyperfluorescence and branch retinal arterial occlusions (BRAOs) in the absence of other signs of intraocular inflammation in all patients. Initial treatment consisted of a high-dose corticosteroid (intravenous or oral) with additional immunosuppressive therapy (azathioprine, intravenous immunoglobulins, mycophenolate mofetil, and/or cyclophosphamide). Residual symptoms were present in all patients and included scotoma (n = 2) and hearing loss (n = 3)., Conclusion: SS is a rare disease with characteristic ophthalmological manifestation. The majority of patients present a crude form of the triad, and retinal findings may be the first initial manifestation. Ophthalmologists should consider the possibility of an SS in all young patients presenting with BRAOs., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Introduction: Susac syndrome (SuS) is a disease manifested as the clinical triad of encephalopathy, branch retinal artery occlusion, and loss of sensory neural hearing., Case Report: The case is presented of a 28-year-old patient hospitalized due to visual impairment of the left eye, and whose hearing and neuropsychiatric disorders had appeared two years earlier. Magnetic resonance imaging demonstrated lesions located in the white matter and along the corpus callosum. An audiogram showed bilateral sensory neural hearing loss. Fluorescein angiography examination revealed branch retinal artery occlusion of the left eye. Based on the clinical picture and results of tests, the diagnosis of SuS was made. Despite the use of steroid and immunosuppression therapy the disease progressed., Conclusions: The prognosis for SuS depends on the early diagnosis and implementation of treatment. It should be underlined that in case of hearing loss or encephalopathy of unknown cause, SuS should always be excluded.

In 2020 the world was captivated by the COVID-19 pandemic. Current scientific evidence suggests an interaction of SARS-CoV-2 and the human immune system. Multiple cases were reported of patients with COVID-19 presenting with encephalopathy, confusion or agitation, stroke, and other neurologic symptoms. We present a case of a 40-year-old man diagnosed with Susac syndrome after COVID-19, presenting with acute sensorineural hearing loss, encephalopathy, a splenial "snowball-like" lesion, and branch retinal artery occlusions with distal arterial wall hyperintensity. Although the pathophysiology of Susac syndrome remains unclear, this case is in line with the ongoing debate about the influence of SARS-CoV-2 on the human immune system. Corticosteroid treatment was initiated, followed by two treatments with rituximab, with clinical improvement of the symptomatology. Maintenance treatment currently consists of mycophenolic acid (MPA). Future research will need to focus on the underlying mechanisms for COVID-19-associated (autoimmune) complications., (© 2021. Journal of NeuroVirology, Inc.)

Susac-syndrome is a rare autoimmune disease that manifests with mood alterations in up to 15% of cases and is usually treated with corticosteroids. We present the case of a 41-year-old woman with a first manic episode and history of Susac-syndrome, secondary Cushing's syndrome after receiving high doses of corticosteroids and a previous depressive episode. Differentiating between primary and secondary mania is difficult, as people with bipolar disorder are prone to multiple psychiatric and nonpsychiatric comorbidities, in this case, the differential diagnosis included secondary mania, corticoid-induced manic episode and primary bipolar disorder. Upon admission, corticosteroid treatment was suspended, and the patient was started on lithium and risperidone. Secondary causes of mania were discarded and, assessing temporal and dosage criteria, it was deemed unlikely that the present episode was corticosteroid-induced. One-year outpatient follow-up pointed towards a primary bipolar type I disorder, as a separate entity from her Susac-syndrome. Corticosteroid use or abrupt withdrawal pose an underestimated risk of inducing depressive or manic symptoms, which may unmask affective disorders in susceptible individuals. Many medical conditions share CNS involvement and/or high-dose/prolonged corticosteroid treatment. In such cases, psychiatric manifestations such as mania or depression should be regarded as secondary and studied to determine the existence of medical complications before considering primary psychiatric conditions., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Susac syndrome (SS) is characterized by the triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. However, the diagnosis of SS remains difficult because the clinical triad rarely occurs at disease onset, and symptom severity varies. SS symptoms often suggest other diseases, in particular multiple sclerosis (MS), which is more common. Misdiagnosing SS as MS may cause serious complications because MS drugs, such as interferon beta-1a, can worsen the course of SS. This case report confirms previous reports that the use of interferon beta-1a in the course of misdiagnosed MS may lead to exacerbation of SS. Moreover, our case report shows that glatiramer acetate may also exacerbate the course of SS. To the best of our knowledge, this is the first reported case of exacerbation of SS by glatiramer acetate., Case Presentation: We present a case report of a patient with a primary diagnosis of MS who developed symptoms of SS during interferon beta-1a treatment for MS; these symptoms were resolved after the discontinuation of the treatment. Upon initiation of glatiramer acetate treatment, the patient developed the full clinical triad of SS. The diagnosis of MS was excluded, and glatiramer acetate therapy was discontinued. The patient's neurological state improved only after the use of a combination of corticosteroids, intravenous immunoglobulins, and azathioprine., Conclusions: The coincidence of SS signs and symptoms with treatment for MS, first with interferon beta-1a and then with glatiramer acetate, suggests that these drugs may influence the course of SS. This case report indicates that treatment with glatiramer acetate may modulate or even exacerbate the course of SS., (© 2021. The Author(s).)

Significance: Susac's syndrome is a rare retinocochleocerebral immune-mediated endotheliopathy and clinically manifests as a pathognomonic triad of encephalopathy, hearing loss, and branch retinal artery occlusion. This triad is rarely present at symptom onset, thus, it is often initially misdiagnosed. To date, Susac's syndrome has persisted as an elusive entity and there are numerous treatment regimens proposed with varying effectiveness mainly based on case series., Purpose: To report our 12-month follow-up experience in the treatment of Susac's syndrome with rituximab., Case Report: A 25-year-old female presenting with headache, paresthesias, tinnitus, peripheral vertigo, and a branch retinal artery occlusion. The patient had a personal history of anxiety-depressive disorder. After discarding other infectious/autoimmune conditions and magnetic resonance imaging suggestive findings of Susac's syndrome, we observed a prompt response to the combination of intravenous immunoglobulin, corticosteroids, and rituximab., Conclusion: A standard treatment paradigm is lacking in Susac's syndrome as randomized controlled trials do not exist. There are no definitive scores to predict its outcome, and early diagnosis is important as the organs involved can easily become irreversibly damaged. Thus, patients with Susac's syndrome must be treated promptly and aggressively. Our report highlights the possibility of positive long-term prognosis with an early use of rituximab. However, a systematic therapeutic approach on the basis of controlled trials is mandatory to develop a consensus.

Purpose of Review: Provide an overview of the current diagnosis, pathophysiology, and treatment of Susac's syndrome (SuS), with special emphasis on summarizing what is currently known about headache as a symptom of disease activity., Recent Findings: The most recent literature in SuS has focused on furthering the understanding of the underlying pathology and efficacy of treatments for SuS. The importance of early recognition to facilitate timely treatment and avoid long-term disability has been highlighted. Headache, the most common symptom experienced by patients with SuS, can occur up to 6 months in advance of other symptoms, and exacerbations of headache can herald increased disease activity. Susac's syndrome (SuS) is a rare disorder classically characterized by triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensory neuronal hearing loss (SNHL). The full triad is uncommon at initial presentation, which can confound efforts to make timely diagnosis and treatment decisions. Headache is the most common symptom in SuS, is often an early feature, and can help separate SuS from other diagnoses in the differential. However, the features and management of the headache associated with SuS have not been systematically defined in the literature.

Purpose: We report a patient with branch retinal artery occlusion predominant Susac syndrome and review the literature on current diagnostic modalities and therapeutic approaches for this rare condition., Methods: Case report., Results: A 23-year-old white male presented with a 5-month history of a scotoma in his right eye vision, headaches, and intermittent paresthesias of the lower extremities. Ophthalmic examination was normal with the exception of a hypopigmented small retinal area inferonasal to the fovea in the right eye. Optical coherence tomography demonstrated inner retinal atrophy and optical coherence tomography angiography showed deep capillary layer vessel dropout in both eyes. Ultra-wide-field fluorescein angiography revealed bilateral arteriolar wall hyperfluorescence. Corpus callosal lesions were present on magnetic resonance imaging. Lumbar puncture demonstrated elevated protein. Audiogram was normal. A diagnosis of Susac syndrome was made. The patient initially received oral steroids followed by intravenous steroids and mycophenolate mofetil because of new branch retinal artery occlusions. Thirteen months after initial presentation, the vision was stable at 20/20 in both eyes., Conclusion: It is a diagnostic challenge when recurrent branch retinal artery occlusion secondary to Susac syndrome presents without the classic symptoms. Optical coherence tomography angiography and subtle magnetic resonance imaging findings aided in early recognition of the diagnosis in our patient. Ultra-wide-field fluorescein angiography was an important tool in disease monitoring. Aggressive management with intravenous corticosteroids and initiation of immunosuppression resulted in long-term preservation of vision and improvement in visual field.

Purpose: To report a case of acute macular neuroretinopathy in a patient with Susac syndrome., Methods: Case report., Results: A 39-year-old male patient presented with severe headache, photopsias, and a sudden onset of hearing loss in the right ear. Fluorescein angiography of the right eye revealed multiple branch retinal artery occlusions. Clinical presentation of encephalopathy, hearing loss, and branch retinal artery occlusions, along with characteristic magnetic resonance imaging findings, led to a diagnosis of Susac syndrome. Despite aggressive immunosuppression for four months, the patient later presented with acute macular neuroretinopathy in the left eye., Conclusion: Acute macular neuroretinopathy and Susac is a new association of two well-defined disorders. The concurrence of both disorders supports retinal ischemia as the proximate cause of acute macular neuroretinopathy and inflammation as a potential etiology.

Cytotoxic agents such as cyclophosphamide are infrequently used in neurological practice. When they are, it is commonly in critically ill patients or in those with refractory inflammatory disorders. Cyclophosphamide in particular has a well-recognised negative impact on both female and male long-term fertility. This article summarises the data with regards the impact of cytotoxics on long-term fertility and describes the current options to preserve fertility in these patients. We hope this will provide neurologists with a useful aid for counselling patients for whom they are considering these treatments., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: To evaluate the effect of tumor necrosis factor (TNF) inhibitor therapy on ocular relapses in patients with Susac syndrome., Methods: Multicenter retrospective cohort study of patients diagnosed with Susac syndrome according to classical clinical criteria. We evaluated the disease activity before and after introduction of anti-TNF therapy and its value as a steroid-sparing agent., Results: Five patients were included. All were initially treated with a combination of corticosteroids and classical immunosuppressive drugs. Infliximab was started in three patients, and adalimumab was started in two patients. Patients had on average 5 ocular relapses during a mean follow-up time of 2.59 years before introducing a TNF inhibitor, corresponding with on average 1.93 relapses per year. After the introduction of an anti-TNF agent, this number was reduced by factor 5.51 to an average of 0.35 relapses per year for a mean follow-up of 2.86 years (P = 0.10). Before anti-TNF introduction ocular relapses occurred at a mean daily dose of 34 mg of prednisone, whereas with anti-TNF treatment, corticosteroid administration could be completely stopped in four patients with one patient still needing 5 mg daily (P = 0.10). Infliximab and adalimumab generally were well tolerated, and no serious adverse events were reported., Conclusion: Although not statistically significant, our results suggest that anti-TNF therapy can be a valuable option for the treatment of ocular Susac syndrome and may especially be considered in those patients unresponsive to more conventional immunosuppressive treatment.

Neuroinflammation is often associated with blood-brain-barrier dysfunction, which contributes to neurological tissue damage. Here, we reveal the pathophysiology of Susac syndrome (SuS), an enigmatic neuroinflammatory disease with central nervous system (CNS) endotheliopathy. By investigating immune cells from the blood, cerebrospinal fluid, and CNS of SuS patients, we demonstrate oligoclonal expansion of terminally differentiated activated cytotoxic CD8 + T cells (CTLs). Neuropathological data derived from both SuS patients and a newly-developed transgenic mouse model recapitulating the disease indicate that CTLs adhere to CNS microvessels in distinct areas and polarize granzyme B, which most likely results in the observed endothelial cell injury and microhemorrhages. Blocking T-cell adhesion by anti-α4 integrin-intervention ameliorates the disease in the preclinical model. Similarly, disease severity decreases in four SuS patients treated with natalizumab along with other therapy. Our study identifies CD8 + T-cell-mediated endotheliopathy as a key disease mechanism in SuS and highlights therapeutic opportunities.

Susac syndrome is a rare, probably immune-mediated endotheliopathy presenting with encephalopathy, sensorineural hearing loss and retinal arterial occlusions. A 33-year-old female with Susac syndrome was worsening despite high-dose steroids so a brain biopsy was performed which suggested a possible fungal infection. Treatment with amphotericin B resulted in prompt reversal of symptoms and radiological findings, and no further symptoms occurred during 8 years of follow-up. A diagnosis of fungal infection was not confirmed. The etiology of Susac syndrome is unknown and this anecdotal observation suggests that an infectious agent susceptible to amphotericin might have caused or triggered Susac syndrome in this patient.

Susac's Syndrome (SS), which was first described in 1979, is a rare and presumably autoimmune disorder characterized by encephalopathy, hearing loss, and visual disturbance resulting from branch retinal artery occlusion (BRAO). This study reports 19 SS patients' clinical characteristics, MRI features, CSF analysis, treatment strategies and outcomes. At initial presentation, only three of 19 patients demonstrated the complete clinical triad. Clinic presentation varied from isolated hemiparesis to the full triad (encephalopathy, hearing loss and visual disturbances). Corpus callosum (CC) involvement was noted in the MRI of 18 patients (97%) and BRAO was detected in 17 (95%) patients. All patients were treated with intravenous methylprednisolone after the initial assessment. This case series is presented to emphasize the differences in clinical presentation of SS and the importance of MRI and FFA in diagnosis., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Susac syndrome is a rare condition presumed to be immune-mediated occlusion of small arterial vasculature principally of the brain, inner ear, and retina. Clinically, the syndrome manifests as a pathognomonic triad of encephalopathy, hearing loss, and branch retinal artery occlusion. Early recognition and diagnosis is important as delayed treatment may be profound and result in deafness, blindness, dementia, and other neurological deficits. The plethora of imaging technology, including magnetic resonance imaging, retinal fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography, allows deeper and more discrete anatomical-physiological correlation of underlying pathology, early diagnosis, and imaging biomarkers for early detection of relapse during follow-up. We highlight the current clinical classification of Susac syndrome, available investigations, treatment, and care pathways., (Copyright © 2019 Elsevier Inc. All rights reserved.)

A 24-year-old woman developed encephalopathy, branch retinal artery occlusion, hearing loss, and had "snowball" lesions in the corpus callosum, classic findings of Susac syndrome (SuS). Despite intensive immunosuppressive therapy, she lapsed into a coma, and died 7 months after the onset of her illness. Neuropathological examination, revealed perivascular inflammation and vasculitis involving small vessels, associated with vascular narrowing and occlusion, and numerous microinfarcts diffusely throughout the brain. The findings establish SuS as a neuroinflammatory condition that can include vasculitis. This represents the most comprehensive report of the neuropathological findings in SuS., (© 2019 American Association of Neuropathologists, Inc. All rights reserved.)

Susac's syndrome is an uncommon autoimmune microangiopathy characterised mainly by encephalopathy, hearing loss and branch retinal artery occlusions. We present here a case of Susac's syndrome with initial isolated arterial stroke symptoms which are not an uncommon feature of the disease.

Susac syndrome is a rare disorder caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear. These occlusions lead to a characteristic clinical triad of central nervous system dysfunction, visual disturbances and vestibule-cochlear deficits. The diagnosis is based on clinical manifestations and complementary studies, which demonstrate the involvement of three systems. There are different treatments that include various immunosuppressive drugs combinations such as corticosteroids, intravenous immunoglobulin, mycophenolate mofetil, among others. We present the case of a 26-year-old woman with left hearing loss, tinnitus and episodes of recurrent vertigo, four weeks after bilateral blurred vision, cerebellar ataxia and encephalopathy. Magnetic resonance imaging of the brain showed multiple rounded hyperintense lesions in t2 and fluid-attenuated inversion recovery (FLAIR), hypointense in t1, at the middle level of the corpus callosum, internal capsule, cerebellum and right middle cerebellar peduncle. The audiometry evidenced bilateral perceptual hearing loss, predominantly in the left ear. Angiography by optical coherence tomography showed obstruction in the deep layer retina arteries. The Susac syndrome was diagnosed and treatment started with methylprednisolone pulses therapy, intravenously 1000 mg/day for 5 days, followed by maintenance with mycophenolate, which completely reversed the encephalopathy, with persistence of mild ataxia and hearing loss. It is important to know the clinical triad characteristic and the complementary studies necessary to arrive at the diagnosis, since immunosuppressive treatment can often be delayed. Our case had an excellent response to corticosteroids.

Susac syndrome is a rare autoimmune disorder characterised by the clinical triad of encephalopathy, retinopathy (branch retinal artery occlusions) and hearing loss. The diagnosis of Susac syndrome may be difficult initially, and it is not uncommon for patients with Susac syndrome to be misdiagnosed with multiple sclerosis. In this case report, we describe a patient who was diagnosed as having multiple sclerosis for three years, with further deterioration after starting treatment with interferon beta-1a. The patient had the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. She had the classic magnetic resonance imaging appearance, with normal magnetic resonance imaging of the spinal cord and absence of oligoclonal bands in the cerebrospinal fluid. Our patient responded well to treatment with a combination therapy and discontinuation of interferon beta-1a. Our observations raise awareness about the importance of the early and correct diagnosis of Susac syndrome, which usually affects young patients, with an excellent prognosis if treated aggressively at an early stage of the disease. Susac syndrome is underdiagnosed and is not uncommonly misdiagnosed as multiple sclerosis. Susac syndrome is a great mimicker of multiple sclerosis, and establishing diagnostic criteria for this syndrome is very useful. In any patient presenting with a progressive disabling neurological disorder associated with callosal lesions and/or hearing loss, and/or visual loss especially in women, Susac syndrome should be suspected.

Susac syndrome is a rare disease characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. This underdiagnosed condition needs to be considered in the differential diagnosis of a broad variety of disorders. An early diagnosis is important as treatment can halt disease progression and prevent permanent disability. Herein, we report a case of Susac syndrome in a 31-year-old woman and we highlight how challenging an early diagnosis was and the importance of an aggressive therapeutic approach, including the combination of steroids and other cytotoxic drugs.

Purpose: To report the use of intravitreal triamcinolone for Susac Syndrome in one patient., Methods: Case report., Results: A 23-year-old woman presented with presented with sudden visual loss in the left eye with associated neurologic symptoms. Ophthalmic examination and fluorescein angiography showed multiple areas of branch retinal artery occlusion, bilaterally. Magnetic resonance imaging showed dot-like, diffusion-restricted lesions in the corpus callosum, and audiometry showed low-frequency sensory hearing loss, compatible with Susac Syndrome. The patient received a single intravitreal injection of triamcinolone (4 mg) in the left eye. One week later, before beginning systemic corticosteroids, all signs and symptoms resolved in the left eye only., Conclusion: In cases of delayed systemic corticosteroid therapy, intravitreal triamcinolone resolves the ocular manifestations of Susac Syndrome.

The Susac's syndrome is a rare disorder that was first described in 1979 and is characterized by a classic triad consisting in encephalopathy, visual impairment and sensorineural hearing loss. However, the etiology of the disease is still unclear. We report the case of a 29-year-old with ulcerative colitis treated with mercaptopurine, six months before to her admission started with personality changes attributed to symptoms of depression who subsequently present neurological symptoms characteristic of Susac's Syndrome. In the literature there is no clear association between inflammatory bowel disease and Susac's -syndrome, but this case is presented in order to emphasize the simultaneous presentation of these two diseases with a tendency to vasospasm and an autoimmune pathogenesis., (Copyright: © 2017 SecretarÍa de Salud.)

Susac syndrome is a rare vasculopathy of unknown aetiology, affecting prominently young women and electively targeting brain (encephalopathy), retina (visual field defects), and cochlea (hearing loss), of which optimal treatment has yet to be established. We report clinical, CSF and MRI features together with the long-term outcome in a monocentric series of eight consecutive patients with unusual sex ratio (5 male; 3 female), to define the best diagnostic/therapeutic strategy. Six patients presented with the classical clinical triad within less than 6 months after symptoms onset; two did not suffer from sensorineural hearing loss. All but one received a treatment combining high doses of methylprednisolone and cyclophosphamide intravenously. The first two patients had very delayed diagnosis (6-4 months) resulting in severe cognitive sequelae. The third one had only mildly delayed diagnosis (2 months) with subsequent behaviour impairment and severe right hypoacousia. All three were unable to return to work. The last five patients who had early diagnosis and undelayed aggressive treatment were able to resume their professional activities.

Susac syndrome is a rare condition characterized by the clinical triad of central nervous system (CNS) dysfunction, sensorineural hearing impairment, and branch retinal artery occlusion (BRAO). The purpose of this study is to examine the demographics, clinical characteristics, treatment, and long-term prognosis of Susac syndrome. The data recorded for all Susac syndrome patients treated at the Sheba Medical Center between 1998 and 2014 included demographics, clinical signs at presentation and during the disease course, imaging findings, treatment, and prognosis.Susac syndrome was diagnosed in 10 patients (age range 30-45 years). Only 2 patients presented with the full triad and 7 patients developed the full triad during mean follow-up period of 35 months. The average time to full triad was 7 months. Based on our observations at presentation, we divided the disease course into suspected, incomplete, and complete Susac syndrome. All 10 patients were treated at diagnosis with a pulse of high-dose intravenous methylprednisolone. There was improvement in visual acuity and visual field at the end of follow-up compared to baseline, but it was not statistically significant (P = 0.479 and P = 0.053, respectively). Five patients remained with neurological damage, and 5 patients had no improvement of their hearing loss at study closure. In conclusion, Susac syndrome is a rare condition that can mimic other disorders. The diagnosis is challenging because most patients do not initially present with the definitive triad. We suggest a clinical classification for the syndrome that may assist in early diagnosis., Competing Interests: The authors have no conflicts of interest to disclose.

Susac syndrome (SS) is a rare retinal-cochlear-cerebral disease with an unclear etiology. A 35-year-old man presented with sudden painless vision loss in the right eye and 2 months later in the left eye with hemiparesis, behavioral changes, and hearing loss. Ophthalmic examinations revealed multiple branch retinal artery occlusions (BRAOs) in both eyes. Brain magnetic resonance imaging showed inflammatory changes with multiple "punched-out" lesions in the corpus callosum which confirmed the diagnosis of SS. Despite intravenous and oral corticosteroid therapy, the disease progressed with the development of new BRAOs, low vision in both eyes, and disability. Prompt diagnosis and early treatment may save the vision and even patient's life., Competing Interests: There are no conflicts of interest.

Susac syndrome is an endotheliopathy affecting the arterioles of the brain, retina, and inner ear. Many cases of Susac syndrome are underdiagnosed, mainly at the early stages of the disease, while prompt diagnosis enables a speedy recovery. Immediate treatment can halt disease progression and even prevent future disability. We report a case of Susac syndrome, describe the difficulties in the diagnosis of this case, and include a detailed history of a 35-year-old man via the presentation of extensive laboratory work-up and imaging studies. Audiometry showed sensorineural hearing loss of about 75 dB in the left ear. Ovoid lesions of the corpus callosum in magnetic resonance (MR) were present as were advanced binocular ophthalmological changes in fluorescent angiography. Methylprednisolone with acetylsalicylic acid and intravenous immunoglobulin (IVIG) were implemented with a positive outcome (clinical and audiometric improvement).

Background: Contrast-enhanced (ce) fluid-attenuated inversion recovery magnetic resonance imaging (FLAIR MRI) has recently been shown to identify leptomeningeal pathology in multiple sclerosis., Objective: To demonstrate leptomeningeal enhancement on three-dimensional (3D) FLAIR in a case of Susac's syndrome., Methods: Leptomeningeal enhancement was correlated with clinical activity over 20 months and compared to retinal fluorescein angiography., Results: The size, number, and location of leptomeningeal enhancement varied over time and generally correlated with symptom severity. The appearance was remarkably similar to that of retinal vasculopathy., Conclusion: Ce 3D FLAIR may aid in diagnosis and understanding of pathophysiology in Susac's syndrome and may serve as a biomarker for disease activity., (© The Author(s), 2016.)

Background: Susac syndrome (retinocochleocerebral vasculopathy) is an autoimmune endotheliopathy affecting the precapillary arterioles of the brain, retina, and inner ear. It presents with encephalopathy, branch retinal artery occlusions, and hearing loss. The condition is often under recognized because the clinical symptoms may present at different times and physicians may be unfamiliar with the syndrome. Peripheral findings would be helpful in early diagnosis. There are numerous treatment regimens proposed with varying effectiveness., Case Presentation: We report the case of a 22-year-old Caucasian man in whom there were prominent skin findings, including livedo reticularis and a micropapular eruption which responded promptly to treatment suggesting that skin involvement may facilitate earlier diagnosis. Rituximab has occasionally been used in more refractory disease. We observed a prompt response to the combination of intravenous immunoglobulin, corticosteroids, and rituximab instituted immediately after diagnosis., Conclusions: A careful search for dermatological manifestations may help with earlier diagnosis. Skin findings may be another marker of endothelial cell involvement. Early use of rituximab as part of the therapeutic regimen may be warranted.

Background: Susac syndrome (SS) is a rare, presumed autoimmune condition characterized by the clinical triad of branch retinal artery occlusions (BRAOs), encephalopathy, and sensorineural hearing loss. The aim of this study was to evaluate clinical features, diagnostic results, treatment, and outcomes in SS., Methods: Five patients with SS were referred to three tertiary care centers in Boston. The observation period across these patients was 7-57months., Results: At initial presentation, none of the patients demonstrated the complete triad of BRAO, sensorineural hearing loss, and encephalopathy. The interval between symptom onset and diagnosis of SS was 4-30weeks. Brain MRI findings thought to be characteristic of SS (including callosal fluid-attenuated inversion recovery (FLAIR) hyperintense and T1 hypointense lesions) were frequently absent. Microinfarcts noted on diffusion-weighted imaging (DWI), BRAOs and vessel wall hyperfluorescence on fluorescein angiography (FA) were present in all cases in the acute encephalopathic phase. All patients treated with glucocorticoids and intravenous immunoglobulins (IVIg) alone experienced further clinical progression until additional immunosuppressive therapy was instituted., Conclusions: The rarity of SS, its incomplete and variable presentation, and the nonspecific imaging findings invariably led to delayed diagnosis. DWI and FA should be used to identify the acute microvascular injury and monitor treatment response. Immunomodulatory agents more potent than glucocorticoids and IVIg might be required to control the disease., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Susac's Syndrome (SS) is a rare disease with unknown aetiology due to a microangiopathy affecting the precapillary arterioles of the brain, retina, cochlea and semicircular canals. Neurological manifestations, visual dysfunction and hearing loss represent the classical clinical triad of SS. Diagnosis is confirmed by laboratory investigations, neuroimaging findings, fluoroangiography and inner-ear studies. An early treatment with steroids and immunosuppressors limits the sequelae of disease. We report a case of SS in which the clinical triad occurred in a very short period of time. Brain MRI showed the involvement of cerebellum, this representing a rare neuroradiological finding in SS. A full remission of disease was obtained by using corticosteroids and cyclophosphamide in the acute-subacute phase and methotrexate as maintenance therapy. This latter has never been used before in SS.