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A oftalmologia como porta de entrada para o diagnóstico de esclerose múltipla : um caso clínico ilustrativo
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Resumo(s)
A Esclerose Múltipla (EM), globalmente prevalente, é caracterizada por inflamação, desmielinização e degeneração neuroaxonal imunomediadas, com acumulação de lesões que afectam o Sistema Nervoso Central (SNC), sendo a doença do SNC que mais frequentemente causa incapacidade permanente em jovens adultos. As manifestações clínicas são vastas, e a nevrite óptica(NO) é a manifestação oftalmológica mais frequente, sendo a apresentação inicial em 19-30% dos doentes, com pelo menos um episódio ao longo do curso da doença em 70%. Apresentamos um caso clínico que reflecte o processo de diagnóstico de EM numa doente com um episódio inaugural de NO. A presença de afecção do nervo óptico foi avaliada por exame objectivo oftalmológico, avaliação dos campos visuais por Perimetria Estática Computorizada (PEC) e também avaliação dos Potencias Evocados Visuais (PEVs). A Ressonância Magnética Crânio-Encefálica (RMCE) foi essencial no estabelecimento do diagnóstico de EM neste caso, segundo os critérios de MacDonald por, a par da clínica, demonstrar a disseminação espacial e temporal das lesões. A RMCE é o gold standard para monitorizar a neurodegeneração e prever a progressão da doença, mas tem limitações. A avaliação das camadas da retina por Tomografia Óptica Computorizada (OCT), especialmente da camada de fibras nervosas retinianas (OCT-CFNR), identifica a diminuição da espessura destas camadas, que se correlaciona com a atrofia cerebral da substância cinzenta, reflectindo a progressão da patologia e a incapacidade neurológica global. Constitui assim um meio menos oneroso que a RMCE, reprodutível e não invasivo que poderá vir a ter um papel estabelecido como marcador biológico da doença e da previsão da sua progressão, parecendo promissor como ferramenta futura a utilizar pelo médico para obter respostas para si e para os seus doentes na face desta doença crónica e incapacitante.
Multiple Sclerosis (MS) is a globally prevalent disease characterized by immune based inflammation, demyelination and neuroaxonal degeneration, with accumulation of lesions that affect the central nervous system (CNS). It’s the disease of the CNS that most frequently causes permanent disability in young adults. The clinical manifestations are vast, and optic neuritis (ON) is the most common ophthalmologic manifestation, being the initial presentation in 19-30% of patients, with at least 70% having one episode during the course of the disease. We present a clinical case that reflects the diagnostic process of MS in a patient presenting with an initial episode of ON. The affection of the optic nerve was assessed by ophthalmologic physical exam, evaluation of visual fields by Computerized Static Perimetry (CSP) and determination of Evocated Visual Potentials (EVP’s). Cranial magnetic resonance imaging (MRI) was essential in establishing the diagnosis in this case, according to the McDonald criteria, because, in conjunction with clinical data, it demonstrates the spacial and temporal dissemination of lesions. Cranial MRI is the gold standard to monitor neurodegeneration and predict disease progression, but it has recognized limitations. The assessment of retinal layers by Optical Coeherence Tomography (OCT), especially the retinal nervous fiber layer (RNFL), identifies the loss of thickness of these layers, which correlates with grey matter atrophy, reflecting disease progression and global neurologic disability. OCT is a method that is reproducible, non-invasive and less expensive than MRI, that might have an established role as a biologic marker of the disease and as way of predicting its progression. It seems promising as a future tool to be used by the physician to obtain answers for himself and his patients, when facing this chronic and debilitating disease.
Multiple Sclerosis (MS) is a globally prevalent disease characterized by immune based inflammation, demyelination and neuroaxonal degeneration, with accumulation of lesions that affect the central nervous system (CNS). It’s the disease of the CNS that most frequently causes permanent disability in young adults. The clinical manifestations are vast, and optic neuritis (ON) is the most common ophthalmologic manifestation, being the initial presentation in 19-30% of patients, with at least 70% having one episode during the course of the disease. We present a clinical case that reflects the diagnostic process of MS in a patient presenting with an initial episode of ON. The affection of the optic nerve was assessed by ophthalmologic physical exam, evaluation of visual fields by Computerized Static Perimetry (CSP) and determination of Evocated Visual Potentials (EVP’s). Cranial magnetic resonance imaging (MRI) was essential in establishing the diagnosis in this case, according to the McDonald criteria, because, in conjunction with clinical data, it demonstrates the spacial and temporal dissemination of lesions. Cranial MRI is the gold standard to monitor neurodegeneration and predict disease progression, but it has recognized limitations. The assessment of retinal layers by Optical Coeherence Tomography (OCT), especially the retinal nervous fiber layer (RNFL), identifies the loss of thickness of these layers, which correlates with grey matter atrophy, reflecting disease progression and global neurologic disability. OCT is a method that is reproducible, non-invasive and less expensive than MRI, that might have an established role as a biologic marker of the disease and as way of predicting its progression. It seems promising as a future tool to be used by the physician to obtain answers for himself and his patients, when facing this chronic and debilitating disease.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2017
Palavras-chave
Esclerose múltipla Tomografia de coerência óptica Potencias evocados visuais Nevrite óptica Oftalmologia