Case Presentation: A 43-year-old presents with a two-year history of progressive ataxia associated with visual disturbances initially attributed to DM and myopia, that partially improved after corrective lenses but have worsened over the past year; he also reports urinary retention and depressive symptoms, and denies p...
Bruna Andrade de Oliveira, B. Brandao, L. Avidago et al.· ANPAbstract_CBN26· 0 citations
Case Presentation: A 56-year-old woman developed progressive imbalance, dysarthria and dysphagia since 2015. Over the following years, she experienced worsening of gait instability, leading to recurrent falls and the need for a walking aid. There was a family history of ataxia, with five affected siblings and a father...
W. S. Cordeiro, Elder Andrade Oliveira, Victor Cézar Marques Santos et al.· ANPAbstract_CBN26· 0 citations
Background: Myasthenia gravis (MG) is an autoimmune disorder characterized by the production of autoantibodies that impair neuromuscular transmission, leading to fluctuating muscle weakness. Although diagnosis and treatment have evolved over recent decades, clinical presentation, laboratory findings, and therapeutic ma...
Julia Fernandes Alves de Oliveira, Maria Clara Magalhães Imbico, L. M. de Matos et al.· ANPAbstract_CBN26· 0 citations
Given the marked phenotypic variability of AOA2, recognition of characteristic neuroimaging patterns may play an important role in raising diagnostic suspicion, and careful evaluation of the dentate nucleus signal on SWI and FLAIR sequences may provide an important radiological clue that facilitates earlier diagnostic...
Brenno Maria Brandão, Bruna Andrade de Oliveira, Maria Clara Magalhães Imbico et al.· ANPAbstract_CBN26· 0 citations
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