Wintzen A R, Plomp J J, Molenaar P C, van Dijk J G, van Kempen G T, Vos R M, Wokke J H, Vincent A
Department of Neurology and Clinical Neurophysiology, Leiden University Medical Centre, The Netherlands.
Ann Neurol. 1998 Oct;44(4):657-64. doi: 10.1002/ana.410440412.
A 32-year-old female presented with a 2-year history of fluctuating generalized weakness including extraocular, bulbar, and limb muscles, suggesting myasthenia gravis, but with poor response to pyridostigmine and unusual electromyographic findings. After rest, power increased on repeated maximal contractions, followed by progressive weakness. There were decremental responses at low-frequency stimulation, but incremental responses at high frequencies, and single stimuli evoked repetitive compound muscle action potentials. Plasmapheresis was ineffective. In a conventional assay, antibodies against acetylcholine receptors (AChRs) were borderline. However, in an assay using cells expressing mainly adult-type human AChRs, the patient's serum was positive. Thymectomy revealed a hyperplastic thymus. An intercostal muscle specimen revealed small miniature end-plate potentials, 0.22+/-0.02 mV instead of 0.56+/-0.05 mV in controls. The number of 125I-alpha-bungarotoxin binding sites was normal. The decay time constant of end-plate potentials was increased from 5.3+/-0.6 msec in controls to 23+/-3.6 msec in the patient. Ultrastructurally, there was no destruction of the end plate. Transfer of the patient's plasma to mice in vivo produced similar physiological changes in their diaphragms. We conclude that the patient has an immune-mediated disorder, in which an antibody specific to the adult form of the AChRs alters the channel properties, reducing total current and slowing the closure. We propose the name "acquired slow-channel syndrome" for this variant of myasthenia gravis.
一名32岁女性,有2年波动性全身无力病史,累及眼外肌、延髓肌和肢体肌肉,提示重症肌无力,但对吡啶斯的明反应不佳,且肌电图表现异常。休息后,重复最大收缩时力量增加,随后进行性无力。低频刺激时有递减反应,但高频刺激时有递增反应,单个刺激可诱发重复复合肌肉动作电位。血浆置换无效。在传统检测中,抗乙酰胆碱受体(AChR)抗体处于临界值。然而,在使用主要表达成人型人类AChR的细胞进行的检测中,患者血清呈阳性。胸腺切除术显示胸腺增生。肋间肌标本显示微小终板电位小,为0.22±0.02 mV,而对照组为0.56±0.05 mV。125I-α-银环蛇毒素结合位点数量正常。终板电位的衰减时间常数从对照组的5.3±0.6毫秒增加到患者的23±3.6毫秒。超微结构上,终板无破坏。将患者血浆体内转移至小鼠,其膈肌产生了类似的生理变化。我们得出结论,该患者患有免疫介导性疾病,其中针对成人形式AChR的特异性抗体改变了通道特性,降低了总电流并减慢了关闭速度。我们为此种重症肌无力变体提出“获得性慢通道综合征”这一名称。