Open AccessAcute ophthalmoplegia in a patient with anti-GQ1b antibody and chronic facial diplegia
Author(s) -
Fanny Huynh Du,
Alexan Yerevanian,
Matthew Shtrahman
Publication year - 2020
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2020-234319
Subject(s) - medicine , miller fisher syndrome , ataxia , differential diagnosis , dermatology , external ophthalmoplegia , pediatrics , pathology , biochemistry , chemistry , psychiatry , mitochondrial dna , gene
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.