de Bruyn Alexander, Poesen Koen, Bossuyt Xavier, Heremans Isaac P, Claeys Thomas, Depuydt Christophe E, Van Damme Philip, Claeys Kristl G
Department of Neurology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Laboratory for Molecular Neurobiomarker Research, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Acta Neurol Belg. 2019 Mar;119(1):29-36. doi: 10.1007/s13760-019-01093-8. Epub 2019 Feb 12.
Anti-GQ1b antibodies can be detected in the serum of patients with Miller Fisher syndrome (MFS) and its incomplete forms such as acute ophthalmoparesis (AO), acute ptosis, acute mydriasis, acute oropharyngeal palsy and acute ataxic neuropathy (AAN), as well as in pharyngeal-cervical-brachial weakness, Bickerstaff brainstem encephalitis (BBE) and in overlap syndromes with Guillain-Barré syndrome (MFS-GBS, BBE-GBS). We searched the laboratory medicine database at University Hospitals Leuven between 2002 and 2017 for serum samples with anti-GQ1b IgG antibodies. We identified eight patients with anti-GQ1b antibodies: 4 MFS, 2 AO, 1 MFS-GBS and 1 AAN. Mean age was 57 years and five patients were males. Preceding illness was present in all patients. At nadir, we observed most frequently gait disturbance, external ophthalmoplegia and absent/decreased reflexes. Albumino-cytological dissociation was present in four patients. Mean time between onset and nadir was 4 days, between onset and recovery 2.5 months. Five patients recovered completely and three had minor residual symptoms. Interestingly, one patient with AO experienced a second identical episode, approximately 1 year after the first one. Our data confirm the broad clinical spectrum associated with the presence of anti-GQ1b IgG antibodies. Incomplete MFS subtypes such as AO are a challenge for diagnosis, because of the limited (though invalidating) clinical presentation and the lack of confirming ancillary tests. Subacute onset of ophthalmoplegia and/or ataxia should urge the clinician to include the anti-GQ1b antibody syndrome in the differential diagnosis.
在米勒-费希尔综合征（MFS）患者及其不完全形式，如急性眼肌麻痹（AO）、急性上睑下垂、急性瞳孔散大、急性口咽麻痹和急性共济失调性神经病（AAN）的血清中，以及在咽-颈-臂肌无力、比克斯特法夫脑干脑炎（BBE）和与吉兰-巴雷综合征的重叠综合征（MFS-GBS、BBE-GBS）中，均可检测到抗GQ1b抗体。我们在2002年至2017年期间检索了鲁汶大学医院的检验医学数据库，查找含有抗GQ1b IgG抗体的血清样本。我们确定了8例抗GQ1b抗体阳性患者：4例MFS、2例AO、1例MFS-GBS和1例AAN。平均年龄为57岁，5例为男性。所有患者均有前驱疾病。在最低点时，我们最常观察到步态障碍、外眼肌麻痹和反射消失/减弱。4例患者出现蛋白细胞分离。发病至最低点的平均时间为4天，发病至恢复的平均时间为2.5个月。5例患者完全康复，3例有轻微残留症状。有趣的是，1例AO患者在首次发作约1年后经历了第二次相同发作。我们的数据证实了与抗GQ1b IgG抗体存在相关的广泛临床谱。AO等不完全MFS亚型对诊断是一项挑战，因为临床表现有限（尽管具有诊断意义）且缺乏确诊的辅助检查。眼肌麻痹和/或共济失调的亚急性发作应促使临床医生在鉴别诊断中考虑抗GQ1b抗体综合征。
