Beri Beri strange: A Case Report of atypical Miller Fisher Syndrome

Case Diagnosis: A patient who developed facial paresthesia, dysphagia, and ataxia was ultimately diagnosed with Miller Fisher Syndrome with the aid of electrodiagnostic studies.

Case Description or Program Description: A 52-year-old female presented with an acute onset of facial paresthesia with rapid progression to involve both upper and lower limbs, associated with impaired gait. Initial suspicion attributed this to the side effects of antipsychotic therapy. Subsequent evaluation revealed generalized areflexia, multifocal cerebellar encephalomalacia, vitamin B1 deficiency, and albuminocytological dissociation. She was treated with intravenous immunoglobulin and transferred to an acute inpatient rehabilitation unit.

Setting: Acute inpatient rehabilitation

Assessment/Results: During her rehabilitation, the patient participated in a multidisciplinary program emphasizing activities of daily living, ambulation, and dysphagia management. Approximately one month following the onset of symptoms, an electrodiagnostic study was performed. The findings were indicative of a diffuse, predominantly sensory, peripheral neuropathy without evidence of axonal loss. Additionally, serological testing before discharge revealed an elevated anti-GQ1b antibody titer. Ultimately, the patient was discharged home with the assistance of a rolling walker and continues in an outpatient rehabilitation program.

Discussion (relevance): Miller Fisher syndrome (MFS) is an uncommon neurological condition characterized by a triad of ataxia, areflexia, and ophthalmoplegia. Other features such as facial nerve palsy and sensory deficits may also be present. This case is notable for its atypical presentation, particularly the absence of ocular involvement. The diagnosis is supported by a combination of clinical presentation, neuroimaging, albuminocytological dissociation, and electrodiagnostic evaluation. This case underscores the diagnostic challenges posed by atypical presentations of MFS and highlights the critical role of comprehensive electrodiagnostic evaluations in the assessment of unusual neurological syndromes.

Conclusions: Miller Fisher syndrome, classically a triad of ataxia, areflexia, and ophthalmoplegia, may present with variable clinical features. Electrodiagnostic studies, along with thorough ancillary testing, is invaluable in diagnosing atypical clinical presentation and guiding subsequent therapeutic and rehabilitative interventions.