Case Presentation: A 71-year-old male presented to the emergency department (ED) complaining of a 3-week history of dysphagia and ~30lb weight loss. He had been transferred to the ED after a failed formal swallow evaluation, nearly three weeks after the onset of symptoms, during which he demonstrated significant aspiration even with thick liquids. In addition to dysphagia, physical exam was notable for hypophonia, dysarthria, diplopia, bilateral horizontal ophthalmoparesis, unilateral ptosis, bilateral weakness with hip flexion, ataxia, hyporeflexia, and normal upper extremity strength. CT head showed no obstructive mass or lesion to explain the dysphagia, and MRI brain showed periventricular and subcortical white matter T2 hyperintensity. Nerve conduction study of the facial nerve and lower extremities showed axonal sensorimotor polyneuropathy. Fiberoptic endoscopic evaluation of swallowing (FEES) showed severe dysphagia characterized by decreased pharyngeal contraction, decreased laryngeal rise/excursion, and decreased laryngeal sensation. CSF was notable for albuminocytologic dissociation (protein 49.9mg/dL, 2 nucleated cells), and serum anti-GQ1b antibodies were elevated (titer 1:200). The constellation of above physical exam findings and CSF led to the diagnosis of the Miller-Fisher variant of Guillain-Barre Syndrome (GBS), due to the classic triad of ophthalmoplegia, areflexia, and ataxia. The patient’s hospital course was complicated by hypoxemic respiratory failure requiring admission to the MICU and intubation as well as a brief episode of atrial fibrillation. The patient was treated with high-dose IVIg (0.4 g/kg) for 5 days, which resulted in complete resolution of symptoms.
Discussion: Miller-Fisher Syndrome (MFS) is estimated to occur in 1-7% of patients with GBS in the western hemisphere. Dysphagia to both solids and liquids is an uncommon presentation for MFS, and is more typically associated with botulism, myasthenia gravis, multiple sclerosis, and brainstem stroke. Estimates from prior studies suggest that only 2% of patients with MFS present with dysphagia as their primary complaint. Although other reports have identified dysphagia as a symptom of MFS, to our knowledge, this is the first report in the adult literature that demonstrates severe dysphagia with significant weight loss as the presenting complaint. Although the etiology of dysphagia in MFS reported in the literature is not clear, studies have shown positive immunostaining of human glossopharyngeal and vagal nerves with anti-GQ1b IgG, suggesting that autoimmune neuropathy of these cranial nerves may play a role. Given the results of the FEES and nerve conduction studies, our patient likely had axonal damage to the vagus nerve, resulting in dysphagia.
Conclusions: Classically, Miller-Fisher syndrome should be considered in anyone who presents with the triad of ophthalmoplegia, areflexia, and ataxia, particularly after a respiratory or gastrointestinal infection. However, this case highlights that severe dysphagia can be the initial manifestation of MFS. Patients who present with isolated dysphagia in the absence of any structural defects should receive a thorough neurological exam, with particular attention to extraocular movements, reflexes, and gait stability, to rule out MFS as a potential cause.
To cite this abstract:Patel, K; Dhawan, A; Nussbaum, E; Sico, J; Merchant, N. AN ATYPICAL CASE OF MILLER-FISHER SYNDROME PRESENTING WITH SEVERE DYSPHAGIA AND WEIGHT LOSS. Abstract published at Hospital Medicine 2019, March 24-27, National Harbor, Md. Abstract 910. https://www.shmabstracts.com/abstract/an-atypical-case-of-miller-fisher-syndrome-presenting-with-severe-dysphagia-and-weight-loss/. Accessed December 6, 2019.