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A Nose for Nuances: Rhinolalia Aperta in Miller F ...
A Nose for Nuances: Rhinolalia Aperta in Miller Fisher Syndrome
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This case describes a 39-year-old man with essential thrombocytosis who developed blurred vision, headache, gait disturbance, paresthesias, dysphagia, and hypernasal speech five days after a viral upper respiratory infection. His neurologic exam showed a positive Romberg sign, diffuse hyporeflexia, and stocking-glove sensory loss, but no clear ophthalmoplegia or weakness. Brain and spine imaging were negative. CSF was normal, without albuminocytologic dissociation, and early testing for other causes was unrevealing. A respiratory panel was positive for human rhinovirus/enterovirus.<br /><br />The patient’s hypernasal speech was identified as rhinolalia aperta, likely due to bulbar neuropathy causing velopharyngeal insufficiency. This was considered an early clue to Miller Fisher syndrome (MFS), a Guillain–Barré syndrome variant classically defined by ophthalmoplegia, ataxia, and areflexia, and sometimes accompanied by bulbar symptoms.<br /><br />Because MFS may not initially show the full classic triad, the absence of ophthalmoplegia and normal CSF did not exclude the diagnosis. The case emphasizes that albuminocytologic dissociation is often absent in the first week but becomes more common later, while anti-GQ1b antibodies are usually detectable early and are highly supportive of diagnosis.<br /><br />On hospital day 2–4, worsening hypernasality and dysphagia led to treatment with IVIG. The patient improved over the next several days: paresthesias regressed, ambulation became comfortable, and hypernasality lessened. After discharge, serum anti-GQ1b antibody testing returned strongly positive at 1:3,200, confirming MFS.<br /><br />Key teaching points: rhinolalia aperta may be an early, underrecognized sign of MFS; normal early CSF does not rule it out; and early anti-GQ1b testing is the most informative supportive test.
Asset Subtitle
Michael A. Santos
Meta Tag
Author List
Andre Kassis, Emily Meisel, Michael A. Santos
Category
Clinical Vignettes
Concept
Miller Fisher syndrome
Concept
Anti-GQ1b antibody
Concept
Rhinolalia aperta
Concept
Ophthalmoplegia
Concept
Gait Ataxia
Distinguished
Non-Finalist
Presenter Organization
Brown University Health
Presenting Author
Michael A. Santos
Track
Adult
Keywords
Miller Fisher syndrome
rhinolalia aperta
anti-GQ1b antibodies
albuminocytologic dissociation
Guillain-Barre syndrome
bulbar neuropathy
hypernasal speech
dysphagia
ataxia
intravenous immunoglobulin
Miller Fisher syndrome
Anti-GQ1b antibody
Rhinolalia aperta
Ophthalmoplegia
Gait Ataxia
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