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Revista Portuguesa de Medicina Geral e Familiar

versão impressa ISSN 2182-5173

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BIZARRO, Marisa Benigno; OLIVEIRA, Marco André; NERY, Lurdes  e  ALVES, Dora Isabel. Myasthenia gravis, the eye as diagnostic clue: a case report. Rev Port Med Geral Fam [online]. 2017, vol.33, n.6, pp.402-406. ISSN 2182-5173.

Introduction: Myasthenia gravis (MG) is a chronic autoimmune neurologic disease, which affects the postsynaptic structures of the neuromuscular junction, characterized by localized or generalized weakness and muscle fatigue. Case description: 31-year-old woman, without significant past medical history, reports difficulty in completely closing both eyelids and discomfort in the anterior cervical region, with onset one month ago. Physical examination revealed apparent exophthalmos, and the hypothesis of thyroid pathology was initially considered. A week later, in addition to the initial complaints, the patient also reported nasal voice and facial discomfort that worsened at the end of the day. A CT scan of the paranasal sinuses was requested to exclude the presence of sinusitis or space occupying lesion. The following week, the patient maintained the same symptoms but, after careful examination, it was verified that the patient also presented with blurred vision, facial paresthesia and dysphagia. The presence of an intracranial space occupying lesion was excluded by magnetic resonance imaging of the brain and then the hypothesis of a neuromuscular disease, namely MG, was considered. The patient was referred to a neurologist. The electromyography with repetitive nerve stimulation and the search for anti-AChR antibodies corroborated this diagnostic hypothesis. The initial response to pyridostigmine was poor, with a negative impact on the patients' quality of life. However, after successive adjustments, her clinical status has significantly improved and she is currently clinically stable with only minor limitations. Due to the chronic nature of the disease and the risk of fluctuations both in clinical evolution and response to treatment, the patient has regular follow-up appointments. Discussion: This case report presented a great diagnostic challenge. It reflects the importance of anamnesis, high level of suspicion (due to theoretical knowledge and clinical experience), and of continuity and transitions of care

Palavras-chave : Myasthenia gravis; Eyelid; Muscle weakness; Diagnosis; Case report.

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