Department of Neurosciences, University of California San Diego Health System, San Diego, California, USA
Department of Neurology, University of California Los Angeles Health System, Los Angeles, California, USA.
BMJ Case Rep. 2020 Jul 9;13(7):e234319. 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.
一位 56 岁男性，有双侧复发性面瘫的既往史，出现了一周的眼肌瘫痪，腱反射正常且无共济失调，伴有脑脊液白蛋白细胞分离和血清抗神经节苷脂 Q1b(GQ1b) IgG 抗体升高。我们诊断该患者为急性眼肌瘫痪无共济失调，这是抗 GQ1b 抗体综合征的一种表现，也包括 Miller Fisher 综合征。鉴于复发性面瘫和抗 GQ1b 抗体综合征的罕见性，以及面瘫与该综合征相关的报道，我们建议我们的病例可能是一种不常见的抗 GQ1b 抗体综合征表现，其始于面瘫数年前的眼肌瘫痪。先前对人类神经的研究提供了对病理生理学的深入了解，包括神经节苷脂分布和交叉反应，这是抗 GQ1b 抗体综合征异质性的基础。本报告可能会扩展复发性面瘫患者的鉴别诊断，并拓宽抗 GQ1b 综合征的表型。
