文章摘要
宋文慧,肖君,姚子昂,田代实,秦川,潘邓记.抗GQ1b抗体综合征复发伴癫痫罕见病例1例报道并文献回顾[J].神经损伤功能重建,2024,(2):73-76
抗GQ1b抗体综合征复发伴癫痫罕见病例1例报道并文献回顾
Relapsed Anti-GQ1b Antibody Syndrome with Seizures: A Rare Case Report and LiteratureReview
  
DOI:
中文关键词: 抗GQ1b抗体综合征  Bickerstaff’s 脑干脑炎  癫痫  发病机制
英文关键词: anti-GQ1b antibody syndrome  Bickerstaff’s brainstem encephalitis  epilepsy  pathogenesis
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作者单位
宋文慧,肖君,姚子昂,田代实,秦川,潘邓记 华中科技大学同济 医学院附属同济医 院神经内科 
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中文摘要:
      目的:探讨抗 GQ1b 抗体综合征患者出现癫痫罕见临床表现的发病机制及临床特点。方法:报道1 例癫痫发作的抗GQ1b抗体综合征患者的临床资料,并进行文献复习。结果:患者为青少年女性,因“行走 不稳5月余,突发肢体抽搐1天”就诊。查体示对称性眼外肌麻痹、腱反射活跃及共济失调;血清抗GQ1b抗 体IgG(+),脑电图示双侧大脑半球散发3~4 Hz棘慢波、多棘慢波,磁共振示双侧额叶、左侧顶叶、双侧丘 脑及脑干异常信号。诊断为抗 GQ1b 抗体综合征Bickerstaff’s脑干脑炎型,给予抗癫痫、类固醇激素及免 疫抑制剂等治疗后好转。检索文献收集相关病例报道4篇,基础实验提示GQ1b抗原与癫痫的发病机制密 切相关。结论:癫痫为抗GQ1b抗体综合征罕见临床表现,推测与GQ1b 抗原分布特点、抗体浓度及血脑屏 障渗透性有关,其潜在机制仍需进一步研究。
英文摘要:
      To investigate the pathogenesis and clinical characteristics of rare clinical manifestations of seizures in patients with anti-GQ1b antibody syndrome. Methods: Clinical data of a case of anti-GQ1b antibody syndrome with seizures was reported and the literatures were reviewed. Results: The patient, a young female, presented with“over five months of unsteady gait and sudden onset of limb convulsions for one day”. The examination revealed symmetrical extraocular muscle paralysis, brisk tendon reflexes, and ataxia; serum anti-GQ1b IgG antibody was positive. The electroencephalogram showed bilateral hemispheric sporadic 3-4 Hz spikes and multiple spike discharges. Magnetic resonance imaging showed abnormal signals in the bilateral frontal lobes, left parietal lobe, bilateral thalamus, and brainstem. The patient was diagnosed with anti-GQ1b antibody syndrome, Bickerstaff brainstem encephalitis type. After treatment with antiepileptic drugs, steroids, and immunosuppressants, the patient improved. Four related case reports were collected, and basic medical science experiments suggested that GQ1b antigen was closely related to the pathogenesis of epilepsy. Conclusion: Seizure is a rare clinical manifestation of the anti-GQ1b antibody syndrome, which is speculated to be related to the distribution characteristics of GQ1b antigens, antibody concentration, and blood-brain barrier permeability. The underlying mechanisms still require further study.
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