Ophthalmological Outcomes in Patients with Susac Syndrome.

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.

Susac syndrome - the current review of knowledge and own experience presentation.

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: The importance of an early diagnosis.

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.

Involuntary crying episodes with Susac's syndrome-a rare presentation of a rare disease: a case report.

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.

Susac syndrome: A scoping review.

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.

Susac Syndrome: A Case Series.

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.

Susac syndrome as a multidisciplinary diagnostic challenge.

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.

Susac syndrome: challenges in the diagnosis and treatment.

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.

Susac syndrome complicating a SARS-CoV-2 infection.

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.

Manifestation of Susac syndrome during interferon beta-1a and glatiramer acetate treatment for misdiagnosed multiple sclerosis: a case report.

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.

Bipolar disorder and Susac syndrome: a case report.

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.

Headache in Susac's Syndrome.

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.

Rituximab in the treatment of Susac's syndrome: Report of a case.

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.

Síndrome de Susac completo en un hombre de 22 años en Colombia: a propósito de un caso y revisión de la literatura / Complete Susac syndrome in a 22-year old male in Colombia: Case report and a review of the literatura

Presentamos el caso de un joven de 22 años con 4 meses de cefalea, hipoacusia y disminución de la visión izquierdos. Su madre refirió además cambios del comportamiento y del estado de ánimo. La resonancia magnética cerebral mostró múltiples lesiones hiperintensas en la rodilla del cuerpo calloso. La audiometría documentó una hipoacusia neurosensorial. En la oftalmoscopia se observó un infarto retiniano de la capa de fibras nerviosas en el ojo izquierdo, el cual fue confirmado con una tomografía de coherencia óptica; la angiografía fluoresceínica mostró múltiples focos de hiperfluorescencia de la pared de las arteriolas, defectos del llenado de las arteriolas, y regiones focales de isquemia de la coroides. Estos hallazgos confirman el diagnóstico presuntivo de un síndrome de Susac. Este es uno de los pocos casos publicados en la literatura de un síndrome de Susac en un hombre joven con la tríada diagnóstica completa, y el primero en Colombia

We report the case of a 22 year-old male with a clinical picture of 4 months onset of headaches, deafness, and a decrease of vision in the left eye. His mother mentioned he also had changes in behaviour and mood. The magnetic resonance scan of the brain showed multiple hyper-intense lesions in the knee of the corpus callosum. The hearing test reported a neurosensory deafness. In the ophthalmoscopy, a retinal infarction was observed in the nerve fibre layer in the left eye, which was confirmed using optical coherence tomography. The fluorescein angiography showed multiple foci of hyperfluorescence of the arteriole walls, arteriole filling defects, and regional ischaemia foci of the choroid. These findings confirmed the presumed diagnosis of a Susac syndrome. This is one of the few cases reported in the literature of a Susac syndrome in a young man with the complete diagnostic triad, and the first in Colombia

Angiografía por tomografía de coherencia óptica en el diagnóstico precoz del síndrome de Susac / Optical coherence tomography angiography in the early diagnosis of Susac syndrome

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Preserving fertility: using cyclophosphamide and other cytotoxics in young people.

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.

EVALUATION OF TUMOR NECROSIS FACTOR INHIBITOR THERAPY IN SUSAC SYNDROME.

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.