Miller Fisher syndrome (MFS) is a variant of Guillain-Barré syndrome (GBS), where the body's immune system erroneously attacks its own nerves. It typically presents with a triad of symptoms: ataxia, ophthalmoplegia, and areflexia. These symptoms often develop rapidly, usually within a few days after a viral or bacterial infection, most commonly following respiratory or gastrointestinal illnesses. The diagnosis of MFS involves clinical examination, electromyography (EMG), nerve conduction studies, and sometimes lumbar puncture to analyze cerebrospinal fluid (CSF). Treatment primarily focuses on supportive care and symptomatic management, with more severe cases requiring intravenous immunoglobulin (IVIG) or plasma exchange (PLEX). Most patients experience spontaneous recovery over several weeks to months, although some may require rehabilitative therapy to regain full function. We present a case of a 47-year-old female with no known past medical history who presented to the emergency department with complaints of left-sided facial droop, dysphagia, pressure-like chest pain, and progressively worsening bilateral upper and lower extremity weakness. Computed tomography (CT) of the head without intravenous contrast was unremarkable for any intracranial abnormalities. Lumbar puncture was performed and was grossly unremarkable for albuminocytologic dissociation; however, CSF serology was significant for positive anti-GQ1 antibody. On the first day of hospitalization, the patient was noted to have increased work of breathing and was subsequently intubated for acute hypercapnic respiratory failure. The patient received therapy with IVIG and PLEX and eventually had a tracheostomy and a percutaneous endoscopic gastrostomy (PEG) tube was placed. The patient was then discharged to a long-term acute care facility (LTAC) with outpatient neurology follow-up. This case aims to emphasize the importance of physical exams and clinical intuition when guiding diagnostics and interventions for complex medical conditions with atypical presentation, such as our case of MFS.
Keywords: acute hypercapnic respiratory failure; albuminocytologic dissociation; anti-gq1 antibody; guillain-barré syndrome (gbs); intubation; miller fisher syndrome (mfs).
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