RESUMO
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.
Assuntos
Oclusão da Artéria Retiniana , Síndrome de Susac , Humanos , Oclusão da Artéria Retiniana/etiologia , Oclusão da Artéria Retiniana/diagnóstico por imagem , Síndrome de Susac/complicações , Síndrome de Susac/diagnóstico por imagem , Síndrome de Susac/diagnóstico , Feminino , Adulto , Angiofluoresceinografia/métodos , Acuidade VisualRESUMO
Susac's syndrome (SS) is a relatively rare cause of multiple recurrent branch retinal arterial occlusions (BRAO). SS is frequently misdiagnosed and probably underdiagnosed. Ophthalmic manifestations may be the sole presenting sign of SS. Comprehensive literature review The typical triad of encephalopathy, sensorineural hearing loss and multiple recurrent BRAO is seldom seen at presentation in SS. The characteristic ophthalmological feature in SS is the presence of recurrent multiple BRAO in the absence of intraocular inflammation. Yellow to yellow-white, non-refractile or refractile retinal arterial wall plaques (Gass plaques) found at midarteriolar segments not associated to bifurcations are commonly found in SS. Because of its ability to capture more peripheral retinal area, ultrawide field fluorescein angiography (FA) has definite advantages over conventional FA and its use should be encouraged in patients suspected of having SS. Optical coherence tomography (OCT), particularly spectral domain OCT complements FA. Patients with BRAO and hearing loss that do not develop encephalopathy during the initial 2 years will most likely not develop encephalopathy. However, these patients will be prone to recurrent BRAO and hearing loss. Imunosuppression is the cornerstone of treatment but the best regimen still needs to be defined. A minority of patients with SS present with the typical triad. A high index of suspicion is needed to make the diagnosis promptly. Early diagnosis and treatment are important to delay disease progression and prevent blindness, deafness and dementia.
Assuntos
Síndrome de Susac , Humanos , Oclusão da Artéria Retiniana/etiologia , Síndrome de Susac/complicações , Síndrome de Susac/diagnósticoRESUMO
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.
Assuntos
Encefalopatias/diagnóstico por imagem , Encefalopatias/etiologia , Síndrome de Susac/complicações , Síndrome de Susac/diagnóstico por imagem , Vertigem/diagnóstico , Anti-Inflamatórios/uso terapêutico , Encefalopatias/tratamento farmacológico , Angiografia por Tomografia Computadorizada , Diagnóstico Diferencial , Feminino , Humanos , Imageamento por Ressonância Magnética , Metilprednisolona/uso terapêutico , Ácido Micofenólico/uso terapêutico , Fármacos Neuroprotetores , Prednisolona/uso terapêutico , Gravidez , Síndrome de Susac/tratamento farmacológicoRESUMO
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.
Assuntos
Humanos , Feminino , Gravidez , Encefalopatias/etiologia , Encefalopatias/diagnóstico por imagem , Vertigem/diagnóstico , Síndrome de Susac/complicações , Síndrome de Susac/diagnóstico por imagem , Encefalopatias/tratamento farmacológico , Metilprednisolona/uso terapêutico , Prednisolona/uso terapêutico , Imageamento por Ressonância Magnética , Fármacos Neuroprotetores , Diagnóstico Diferencial , Síndrome de Susac/tratamento farmacológico , Angiografia por Tomografia Computadorizada , Anti-Inflamatórios/uso terapêutico , Ácido Micofenólico/uso terapêuticoRESUMO
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.
Assuntos
Humanos , Feminino , Adulto , Encefalopatias , Síndrome de Susac/complicações , Síndrome de Susac/diagnóstico , Audiometria , Encefalopatias/etiologia , Espectroscopia de Ressonância Magnética , Perda Auditiva/etiologiaRESUMO
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.
Assuntos
Oclusão da Artéria Retiniana/diagnóstico por imagem , Oclusão da Artéria Retiniana/patologia , Síndrome de Susac/diagnóstico por imagem , Síndrome de Susac/patologia , Feminino , Angiofluoresceinografia/métodos , Humanos , Imageamento por Ressonância Magnética , Recidiva , Oclusão da Artéria Retiniana/complicações , Síndrome de Susac/complicações , Fatores de Tempo , Transtornos da Visão/etiologia , Adulto JovemRESUMO
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.
Assuntos
Humanos , Feminino , Adulto Jovem , Oclusão da Artéria Retiniana/patologia , Oclusão da Artéria Retiniana/diagnóstico por imagem , Síndrome de Susac/patologia , Síndrome de Susac/diagnóstico por imagem , Recidiva , Fatores de Tempo , Transtornos da Visão/etiologia , Imageamento por Ressonância Magnética , Angiofluoresceinografia/métodos , Oclusão da Artéria Retiniana/complicações , Síndrome de Susac/complicaçõesRESUMO
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.