Acute ophthalmoplegia in a patient with anti-GQ1b antibody and chronic facial diplegia

• Published in: BMJ case reports Vol. 13; no. 7; p. e234319
• Main Authors: Du, Fanny Huynh, Yerevanian, Alexan, Shtrahman, Matthew
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 09.07.2020; BMJ Publishing Group
• Series: Case report
• Subjects: Antibodies; Ataxia; Autoantibodies - blood; Case reports; Diplopia; Encephalitis; Epstein-Barr virus; Gangliosides - blood; Guillain-Barre syndrome; Humans; Immunoglobulins; Male; Middle Aged; Miller Fisher Syndrome - diagnosis; Miller Fisher Syndrome - immunology; Nausea; Tuberculosis; Unusual Presentation of More Common Disease/Injury; Vomiting; skin; cranial nerves; neuromuscular disease; neuroopthalmology; immunology
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2020-234319

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.