| Literature DB >> 32646933 |
Fanny Huynh Du1, Alexan Yerevanian2, Matthew Shtrahman3.
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. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.Entities:
Keywords: cranial nerves; immunology; neuromuscular disease; neuroopthalmology; skin
Mesh:
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Year: 2020 PMID: 32646933 PMCID: PMC7351293 DOI: 10.1136/bcr-2020-234319
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X