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Unusual presentation of more common disease/injury
Case report
Acute ophthalmoplegia in a patient with anti-GQ1b antibody and chronic facial diplegia
  1. Fanny Huynh Du1,
  2. Alexan Yerevanian2 and
  3. Matthew Shtrahman1
  1. 1Department of Neurosciences, University of California San Diego Health System, San Diego, California, USA
  2. 2Department of Neurology, University of California Los Angeles Health System, Los Angeles, California, USA
  1. Correspondence to Dr Fanny Huynh Du; fhdu{at}ucsd.edu

Abstract

A 56-year-old man with a remote history of bilateral recurrent facial palsies presented with a week of ophthalmoplegia with intact deep tendon reflexes and lack of ataxia, cerebrospinal fluid with albuminocytologic dissociation and elevated serum anti-ganglioside Q1b (GQ1b) IgG antibody. We diagnosed the patient with acute ophthalmoplegia without ataxia, a condition under the spectrum of anti-GQ1b antibody syndromes which also includes Miller Fisher syndrome. Given the rarity of recurrent facial palsies and anti-GQ1b antibody syndromes as well as reports associating facial palsies and this syndrome, we suggest that our case may be an unusual presentation of an anti-GQ1b antibody syndrome beginning with recurrent facial palsies several years prior to ophthalmoplegia. Prior studies of human nerves provide insight into the pathophysiology, including ganglioside distribution and cross-reactivities underlying the heterogeneity of anti-GQ1b antibody syndromes. This report may expand the differential diagnosis in patients with recurrent facial palsies and broaden the phenotype of anti-GQ1b syndromes.

  • cranial nerves
  • neuromuscular disease
  • neuroopthalmology
  • skin
  • immunology

https://doi.org/10.1136/bcr-2020-234319

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    Footnotes

    • Contributors FHD was a resident physician involved in the patient’s care and wrote the manuscript. AY was a resident physician involved in the patient’s care and contributed to the conceptualisation of the manuscript and made revisions. MS was an attending physician involved in the patient’s care and made revisions.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.