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ABSTRACT 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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Systemic vasculitis is a group of rare diseases that share an essential characteristic: inflammation of blood vessel walls. This injury occurs during the disease course, but specific features vary for each entity. In this paper, we will address relevant aspects of the newest monogenic mutation vasculitis, such as deficiency of adenosine deaminase 2 (ADA2) and VEXAS syndrome (UBA1), and other relevant vasculitis, such as Cogan syndrome and Susac syndrome that may share some similarities with them.

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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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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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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.

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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.

El síndrome de Susac es una enfermedad rara causada por oclusión autoinmune de la microvasculatura del cerebro, de la retina y del oído interno, lo que provoca la triada clínica característica de disfunción del sistema nervioso central, trastornos visuales y déficit vestíbulo-coclear. El diagnóstico se basa en las manifestaciones clínicas y en estudios complementarios que demuestren el compromiso de los tres sistemas. Existen diferentes tratamientos que incluyen combinaciones de varios fármacos inmunosupresores como corticoides, inmunoglobulina intravenosa, micofenolato mofetilo, entre otros. Presentamos el caso de una mujer de 26 años que manifestó hipoacusia izquierda, zumbidos y episodios de vértigo recurrente. Cuatro semanas después agregó visión borrosa bilateral, ataxia cerebelosa y encefalopatía. La resonancia magnética de cerebro mostró múltiples lesiones redondeadas hiperintensas en t2 y FLAIR (fluid-attenuated inversion recovery), hipointensas en t1 a nivel medial del cuerpo calloso, cápsula interna, cerebelo y pedúnculo cerebeloso medio derecho. La audiometría evidenció hipoacusia perceptual bilateral a predominio del oído izquierdo y en la angiografía por tomografía de coherencia óptica se observó obstrucción de arterias de la capa profunda de la retina. Se diagnosticó síndrome de Susac y se inició tratamiento con pulsos de metilprednisolona por 5 días y mantenimiento con micofenolato, revirtiendo totalmente la encefalopatía, con persistencia de leve ataxia e hipoacusia. Es importante conocer la triada clínica característica y los estudios complementarios necesarios para arribar al diagnóstico, ya que muchas veces se puede demorar el tratamiento inmunosupresor. Nuestro caso tuvo una excelente respuesta a los corticoides.

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El síndrome de Susac es una enfermedad rara causada por oclusión autoinmune de la microvasculatura del cerebro, de la retina y del oído interno, lo que provoca la triada clínica característica de disfunción del sistema nervioso central, trastornos visuales y déficit vestíbulo-coclear. El diagnóstico se basa en las manifestaciones clínicas y en estudios complementarios que demuestren el compromiso de los tres sistemas. Existen diferentes tratamientos que incluyen combinaciones de varios fármacos inmunosupresores como corticoides, inmunoglobulina intravenosa, micofenolato mofetilo, entre otros. Presentamos el caso de una mujer de 26 años que manifestó hipoacusia izquierda, zumbidos y episodios de vértigo recurrente. Cuatro semanas después agregó visión borrosa bilateral, ataxia cerebelosa y encefalopatía. La resonancia magnética de cerebro mostró múltiples lesiones redondeadas hiperintensas en t2 y FLAIR (fluid-attenuated inversion recovery), hipointensas en t1 a nivel medial del cuerpo calloso, cápsula interna, cerebelo y pedúnculo cerebeloso medio derecho. La audiometría evidenció hipoacusia perceptual bilateral a predominio del oído izquierdo y en la angiografía por tomografía de coherencia óptica se observó obstrucción de arterias de la capa profunda de la retina. Se diagnosticó síndrome de Susac y se inició tratamiento con pulsos de metilprednisolona por 5 días y mantenimiento con micofenolato, revirtiendo totalmente la encefalopatía, con persistencia de leve ataxia e hipoacusia. Es importante conocer la triada clínica característica y los estudios complementarios necesarios para arribar al diagnóstico, ya que muchas veces se puede demorar el tratamiento inmunosupresor. Nuestro caso tuvo una excelente respuesta a los corticoides.

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.

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La esclerosis múltiple (EM) es la enfermedad inflamatorio-desmielinizante del Sistema nervioso central más prevalente en adultos. La resonancia magnética (RM) juega un rol cada vez más importante en el estudio de esta patología, en especial en su diagnóstico precoz, por lo que la diferenciación imagenológica de variantes frecuentes e infrecuentes de EM con otras patologías de sustancia blanca que comprometen encéfalo y médula espinal es esencial. Mediante una revisión pictórica se ilustrarán características típicas en RM del compromiso por EM y de variantes menos habituales de lesión desmielinizante, y se ilustrarán hallazgos característicos de lesiones relacionadas a vasculopatías inflamatorias y no inflamatorias, encefalomielitis diseminada aguda (ADEM), neuromielitis óptica (NMO) y enfermedades vasculares de la médula espinal que pueden simular EM, con énfasis en el diagnóstico diferencial radiológico.

Multiple sclerosis (MS) is the most prevalent inflammatory-demyelinating disease of the central nervous system in adult population. Magnetic resonance imaging (MRI) has an increasingly important role, especially in early diagnosis, so the imaging differentiation of frequent and infrequent variants of MS with other white matter diseases of brain and spinal cord is essential. Through a pictorial essay we show typical MR features of MS and more infrequent variants of demyelinating lesions and illustrate characteristic imaging findings of inflammatory and non-inflammatory vasculopathies, acute disseminated encephalomyelitis (ADEM), neuromyelitis optica (NMO) and vascular diseases of spinal cord that may simulate MS, with emphasis on imaging differential diagnosis.

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RESUMEN El síndrome de Susac (SS) es una enfermedad autoinmune microangiopática poco frecuente, caracterizada por la tríada clínica: encefalopatía, alteraciones visuales e hipoacusia. Es una entidad de prevalencia desconocida dado su difícil diagnóstico debido a que la mayoría de las veces no se presenta con la tríada clínica clásica, y, dado que presenta múltiples diagnósticos diferenciales. Se reporta un caso de SS presentado en el Hospital del Salvador, con descripción de sus manifestaciones clínicas, estudio y manejo inicial. Además de una revisión en la literatura sobre la variabilidad de los hallazgos clínicos y el manejo de esta patología.

ABSTRACT Susac syndrome (SS) is a rare autoimmune micronagiopathic disease, characterized by the clinical triad of, encephalopathy, visual impairment and hearing loss. It is a difficult entity to diagnose since most of the time it does not present itself with the classical clinical triad, and it may be confused with other differential diagnoses. One clinical case of a patient with SS is described, its clinical manifestations, diagnosis and initial treatment. In addition, a literature review about the multiple clinical findings and management of these disease.

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INTRODUCTION: From its initial report on two female patients in 1979 by J.O. Susac, Susac syndrome (SuS) or SICRET (small infarctions of cochlear, retinal and encephalic tissue) has persisted as an elusive entity. To date the available evidence for its treatment is based on case reports and case series. The largest systematic review described only 304 reported cases since the 1970s. Here we presented the first reported case to our knowledge in Mexican population and the unusual presentation in a pregnant patient. CASE PRESENTATION: A 34-year-old Hispanic woman was brought to the ER in our hospital for apathy and behavioral changes. Upon arrival at the ER, her husband described a one-month history of behavioral changes with apathy, progressive abulia, visuospatial disorientation, and gait deterioration. The initial lab test shows no significance except by a positive qualitative hCG. An MRI was obtained and showed hyperintense periventricular white matter lesions in T2 and FLAIR sequences also involving bilateral basal ganglia and with predominant affection of the corpus callosum, in addition to infratentorial cerebellar lesions. After treatment with intravenous immunoglobulins a marked and prompt clinical and radiological improvement was observed. CONCLUSION: SuS is still an elusive disease. To date, no definitive score or clinical feature can predict the outcome of the disease. The presentation during pregnancy is also rare and therefore the optimal treatment and the prognosis is unknown. We hope that this article will serve as a foundation for future research.

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ABSTRACT Susac's syndrome, or microangiopathy of the retina, inner ear, and brain, is a rare condition characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. The complete triad has been documented in 85% of reported cases. At clinical onset, the most common manifestations are central nervous system symptoms, followed by visual symptoms and hearing disturbances. Although the clinical course of Susac's syndrome is usually self-limiting, fluctuating, and monophasic, clinical polycyclic and chronic courses have also been described. Likewise, recurrences of the full triad after more than 10 years of remission have been reported. We describe a 21-year-old woman who presented with branch retinal artery occlusions and magnetic resonance imaging findings compatible with Susac's syndrome without objective hearing loss. After 10 years of remission, the patient complained of visual field loss due to new retinal ischemia. Neither other symptoms nor neuroimaging or audiometry pathologic findings were found during the clinical course.

RESUMO A síndrome de Susac, ou a micro angiopatia da retina, do ouvido interno e do cérebro, é uma condição rara caracterizada pela tríade clínica de encefalopatia, oclusão de ramo da artéria retiniana e perda de audição neuro-sensorial. A tríade completa é documentada em 85% dos casos registrados. No início dos sinais clínicos, a manifestação mais comum relaciona-se ao sistema nervoso central, seguida por sintomas visuais e distúrbios auditivos. Apesar do curso clínico da síndrome de Susac ser usualmente auto limitante, variável e monofásico, cursos clínicos policíclicos e crônicos têm sido também descritos. Do mesmo modo, recorrências da tríade completa após mais de 10 anos de remissão têm sido relatadas. Descrevemos o caso de uma mulher de 21 anos que apresentava oclusões de ramos da artéria retiniana e imagens por ressonância magnética compatíveis com a síndrome de Susac, sem comprometimento objetivo da audição. Dez anos após a remissão, a paciente queixou-se de perda de campo visual devido a uma nova isquemia da retina. Nenhum outro sintoma, ou neuroimagem ou achado audiométrico patológico foi observado durante o curso clínico.

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Introdução: a tríade clássica composta por progressiva disfunção neurológica, associada à surdez, e alterações visuais, foi descrita inicialmente em 1979 por Susac et. al. Rara, entretanto, com grande potencial de destruição, a Síndrome de Susac (SS) sempre deve ser aventada por otorrinolaringologistas em casos de surdez súbita, principalmente quando associada a quadros de encefalopatia aguda. Se diagnosticada corretamente, tratada de forma agressiva, precoce e em período adequado aumenta substancialmente o sucesso na recuperação da doença, bem como na prevenção de sequelas. Objetivo: o presente manuscrito descreve o caso clínico de uma paciente jovem, do sexo feminino, com Síndrome de Susac. Metodologia: a história clínica do caso foi desenhada a partir de anamnese detalhada com a paciente portadora da síndrome, que também nos forneceu os resultados de seus exames laboratoriais, de imagens e audiométricos. Fundamentando o tema a dados disponíveis na literatura científica, foi redigido o manuscrito a seguir. Resultados: o presente caso descreve o relato de uma jovem com SS tendo como primeira hipótese a esclerose múltipla, entretanto somente após o aparecimento completo da tríade, se confirmou o diagnóstico adequado. Conclusão: é importante incluir a hipótese da SS no diagnóstico diferencial de esclerose múltipla em adultos jovens, principalmente se a clínica do paciente evolui de forma atípica. Sutis manifestações otorrinolaringológicas ou de retina nestes pacientes, são dados essenciais e devem chamar atenção para a Síndrome de Susac.

Introduction: the classic triad composed by progressive neurological dysfunction associated to deafness and visual changes was first described in 1979 by Susac et. al. Despite of being a rare disease, Susac's syndrome (SS) has a high destruction potential, and has to be evaluated otolaryngologist in sudden deafness case, manly when associated with acute encephalopathy. If occur a correctly diagnostic associated with an aggressive, premature and appropriated period of treatment, the success of disease's recovery increase substantially, as well as sequels prevention. Objective: The present manuscript describes the report of a young woman with Susac´s syndrome. Methodology: the clinical history of the case was described from the detailed anamnesis with the patient with the syndrome, who also provided the results of her laboratory, imaging and audiometric tests. Based on the data available in the scientific literature, the following manuscript was written. Results: the present case describes the report of a young woman with SS. She had multiple sclerosis as first diagnosis, though the right diagnosis had only been confirmed after the triad completely appeared. Conclusion: it is important to include the SS hypothesis in the differential diagnosis of multiple sclerosis in young adults, especially if the patient's clinic evolves atypically. Subtle otolaryngological or retinal manifestations in these patients are essential data and should call attention to the Susac Syndrome.

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Susac Syndrome is a rare entity, characterized by a triad of subacute encephalopathy, retinal artery occlusion and sensorineural hearing loss. It is more common in women and the age of onset fluctuates between 9-58 years of age. The pathogenesis is presented as microangiopathic changes at the cerebral, retinal and cochlear levels associated with an autoimmune mechanism. We present the case of a 31-year-old woman who started with a diffuse headache, puerile behavior, bradylalia and somnolence. As the disease progressed, she had auditory deficit and arterial obstruction of the right temporal retinal branch in retinal fluorescein angiography. Brain magnetic resonance showed rounded hyperintense lesions in the corpus callosum, periventricular region and cerebellum. This is the first reported case of Susac Syndrome in Peru, presented with the classic triad, which is an infrequent presentation. However, cases that show incomplete forms should be evaluated in a timely manner to initiate timely treatment and avoid irreversible consequences.

El síndrome de Susac es una entidad rara, caracterizada por la triada clásica de encefalopatía subaguda, oclusión de la arteria retiniana e hipoacusia neurosensorial. Es más frecuente en mujeres, la edad de inicio fluctúa entre los nueve y los 58 años de edad. La patogénesis se plantea como un cuadro microangiopático a nivel cerebral, retiniano y coclear asociado a un mecanismo autoinmune. Presentamos el caso de una mujer de 31 años de edad que inició con cefalea holocraneana, conducta pueril, bradilalia y somnolencia. En la angiografía con fluoresceína de retina presentó en la evolución un déficit auditivo y obstrucción arterial de la rama temporal retiniana derecha. La resonancia magnética cerebral mostró lesiones redondeadas hiperintensas en el cuerpo calloso, región periventricular y cerebelo. Se reporta el primer caso de síndrome de Susac definido en Perú, el que se manifestó con la triada clásica, que es de presentación poco frecuente. Sin embargo, también los casos que muestran formas incompletas deben ser evaluados oportunamente para iniciar un tratamiento oportuno y evitar secuelas irreversibles.

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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.

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Objetivo. Se describe un caso de una paciente femenina de 23 años de edad, con cefalea temporal unilateral izquierda de tipo opresiva, asociado a ataxia, desorientada en espacio y tiempo, y bradipsiquia. Métodos. El abordaje inicial fue hacia una posible esclerosis múltiple y asociada a la clínica y paraclínicos se sospechó una encefalomielitis diseminada aguda para lo cual inician pulsos de metilprednisolona, y dan egreso. Al mes, consulta nuevamente por exacerbación de la sintomatología neurológica dada por pérdida de la fuerza en miembros superiores e inferiores, disartria, relajación de esfínteres, somnolencia, se da como diagnóstico diferencial enfermedad de Devic, y al no obtener la respuesta adecuada a los corticoides se decide manejo con plasmaféresis, además de solicitar exámenes para descartar la patología en cuestión. Resultados. Se enfocó a la paciente con un posible diagnóstico de Síndrome de Susac solicitándose una arteriografía retiniana, y potenciales auditivos evocados.

The presented patient is a female of 23 years of age, with left-sided temporal headache, of the oppressive kind, associated with ataxia, disoriented in space and time, and mental slowing. The initial approach was to work toward a possible multiple sclerosis; then, the clinical and paraclinical tests arose the suspicion of an acute disseminated encephalomyelitis which was treated with methylprednisolone pulse and given discharge. Within a month, the patient returns for exacerbation of neurological symptoms given by loss of strength in upper and lower limbs, dysarthria, wetting, drowsiness; so the differential diagnosis that was given was Devic's disease, and as she was not responding properly to corticosteroids, it is decided to try with plasmapheresis. Finally the patient was focused with a possible diagnosis of Susac Syndrome with an arteriography paraclinical retinal and auditory evoked potentials.

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Susac's syndrome is a rare disease attribuited to a microangiopathy involving the arterioles of the cochlea, retina and brain. Encefalopathy, hearing loss, and visual deficits are the hallmarks of the disease. Visual loss is due to multiple, recurrent branch arterial retinal occlusions. We report a case of a 20-year-old women with Susac syndrome presented with peripheral vestibular syndrome, hearing loss, ataxia, vertigo, and vision loss due occlusion of the retinal branch artery.

Síndrome de Susac é uma microangiopatia rara que afeta as arteríolas da cóclea, retina e encéfalo. Encefalopatia, perda auditiva e baixa da acuidade visual formam a tríade clássica da doença. A baixa de acuidade visual ocorre devido a múltiplas e recorrentes oclusões de ramo arterial da retina. Relatamos o caso de uma paciente de 20 anos com síndrome de Susac apresentando síndrome vestibular periférica, perda auditiva, vertigem, ataxia e baixa da acuidade visual por oclusão de ramo arterial de retina.

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RESUMEN

We report a case of a 19-year-old woman presenting bilateral neurosensorial hearing loss, mental abnormalities, and loss of visual field in the left eye. Visual acuity was 20/20 in OD and 20/25 in OS. Patient was examined systemically. Audiometry showed sensorineural hearing loss in both ears. The magnetic resonance imaging (MRI) of brain revealed multiple small lesions in the white matter in both cerebral hemispheres and at the corpus callosum. Fundoscopy showed bilateral normal optic disc and sheathing of the arterioles in the middle periphery of OD. Retinal edema and cotton-wool spots were observed. Fluorescein angiography showed bilateral peripheral occlusive arterial vasculopathy. The patient was diagnosed with Susac syndrome and treated with quetiapine fumarate, flunitrazepam, and prednisone, which resulted in stabile outcome. This case shows that a high index of suspicion leading to early recognition and treatment is important to avoid irreversible damage.

Relatamos o caso de uma mulher de 19 anos apresentando perda auditiva neurossensorial bilateral, anormalidades mentais e perda de campo visual no olho esquerdo. A acuidade visual era 20/20 em OD e 20/25 em OE. Paciente foi sistematicamente investigada, audiometria mostrou perda auditiva neurossensorial nos dois ouvidos e ressonância magnética nuclear (RNM) cerebral mostrou múltiplas pequenas lesões na substância branca em ambos os hemisférios cerebrais e no corpo caloso. A fundoscopia mostrou disco óptico normal bilateral, e embainhamento das arteríolas na média periferia do olho direito. Edema de retina e exsudatos algodonosos foram vistos. Angiofluoresceinografia mostrou vasculopatia arterial obstrutiva periférica bilateral. A paciente foi diagnosticada com síndrome Susac e tratada com fumarato de quetiapina, flunitrazepam e prednisona resultando em estabilização do quadro. Este caso mostra que um alto índice de suspeita levando ao reconhecimento precoce e tratamento é importante para evitar o diagnóstico tardio.

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