病例简介
患者为36岁男性，因“进行性肢体疼痛、出汗过多和肌肉痉挛”就诊。患者述其饮用冷水后会出现短暂的声音异常。检查显示全身肌纤维颤搐和假性肌强直。EMG显示多个自发性连续的高频双峰和三峰运动单元放电。神经传导检查和胸部CT扫描正常。CASPR2和LGI1抗体均为阴性。自身免疫、副肿瘤和其他病因经临床以及额外的血清学检测和影像学排除。IV免疫球蛋白和卡马西平治疗疼痛后症状完全缓解。
疼痛性痉挛、肌纤维颤搐、多汗症和假性肌强直是Isaacs综合征的主要特征。Isaacs综合征是一种外周神经过度兴奋性疾病，通常与针对电压门控钾通道成分的抗体有关。然而，<50％的患者为抗体阳性[1]。延髓球部受累较罕见，该患者表现为寒冷诱发的假性肌强直，既往未见文献报道[2]。
文献参考：
[1] Vincent A, Pettingill P, Pettingill R, et al. Association of leucine-rich glioma inactivated protein 1, contactin-associated protein 2, and contactin 2 antibodies with clinical features and patient-reported pain in acquired neuromyotonia. JAMA Neurol 2018; 75: 1519–1527.
[2] Hart IK, Maddison P, Newsome-Davis J, Vincent A, Mills KR. Phenotypic variants of autoimmune peripheral nerve hyperexcitability. Brain 2002; 125: 1887–1895.
文献索引：Hugo Morales-Briceño, Jose Renan Perez, Bettina Balint and Victor S.C. Fung. Teaching Video NeuroImages: Cold-induced laryngeal pseudomyotonia in Isaacs syndrome. Neurology June 4, 2019 92:e2734. http://n.neurology.org/content/92/23/e2734.extract
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