抗甘氨酸受体抗体阳性的僵人综合征(附2例报告及文献复习)  

Stiff-person Syndrome with Glycine Receptor Antibodies:Two Cases Report and Literature Review

作　　者：邱玥 邓波 陈向军 刘小妮 张祥 俞海 董思其 QIU Yue;DENG Bo;CHEN Xiang-jun;LIU Xiao-ni;ZHANG Xiang;YU Hai;DONG Si-qi(Department of Neurology and Insitute of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China;National Center for Neurological Disorders,Shanghai 200040,China)

机构地区：[1]复旦大学附属华山医院神经科、复旦大学神经病学研究所,上海200040 [2]国家神经疾病医学中心,上海200040

出　　处：《中国临床神经科学》2023年第1期69-74,共6页Chinese Journal of Clinical Neurosciences

基　　金：上海申康医院发展中心临床三年行动计划资助(编号:SHDC2020CR2027B);上海市卫生健康委员会,2020年中央转移支付医疗卫生机构能力建设项目(国家和省级重大疾病多科学合作诊疗能力建设项目)。

摘　　要：目的分析抗甘氨酸受体(GlyR)抗体阳性的僵人综合征(SPS)的临床特征,提高神经科医生对抗GlyR抗体阳性SPS的认识。方法纳入自2013年12月至2019年6月就诊符合SPS诊断标准的19例患者。利用转染表达GlyR的人胚肾细胞作为检测基质,采用间接免疫荧光法检测患者血清和脑脊液中的抗GlyR抗体;并结合文献分析抗GlyR抗体阳性SPS患者的临床特征。结果19例患者临床符合SPS诊断,其中6例为抗谷氨酸脱羧酶(GAD)抗体阳性,无病例检测到抗两性蛋白抗体;2例患者抗GlyR抗体阳性,临床上均表现为下肢肌肉僵硬、强直,合并自发或外界刺激导致的痉挛,以及下肢僵硬导致的行走困难和步态不稳。其中1例患者因伴有眼肌阵挛、上睑下垂、小便困难,诊断为“伴肌强直和肌阵挛的进行性脑脊髓炎”,另1例患者仅表现为下肢局限性受累,诊断“僵肢综合征”。2例患者接受安定类药物治疗后症状均得到显著改善,1例患者有复发,加用糖皮质激素治疗有效。结论抗GlyR抗体阳性的患者临床可表现为SPS。基于转染细胞的间接免疫荧光法可用于检测疑似SPS患者血清和脑脊液中抗GlyR抗体,为该类疾病的诊断提供免疫学依据;临床医生尽早启动对症及免疫治疗以改善患者症状及预后。Aim To report two stiff person syndrome(SPS)patients with glycine receptor(GlyR)antibodies.Two patients’clinical data along with literatures were analyzed to improve the recognition of this disease.Methods Patients diagnosed as the SPS at neurology department of Huashan Hospital,Fudan University between December,2013 to June,2019 were included.A cell-based assay was established to detected autoantibodies targeting to GlyR in patients’sera and cerebrospinal fluid(CSF).Results Nineteen patients with SPS were eventually enrolled,six of them had glutamic acid decarboxylase(GAD)antibodies and none of them had amphiphysin antibodies.GlyR antibodies were identified in two patients’sera(one’s CSF).Both of them presented with muscle rigidity,spontaneous or stimulus-evoked painful spasms of lower extremities and walk instability.One patient was diagnosed as progressive encephalomyelitis with rigidity and myoclonus(PERM)because of the co-occurrence of opsoclonus,ptosis and dysuria,the other patient was diagnosed as stiff limb syndrome because his symptoms were restricted to one leg.Both patients got symptom relief after benzodiazepines were administrated.The patient with PERM underwent a relapse and the addition immunotherapy of corticosteroids worked.Conclusion The patients with GlyR antibodies can presented with SPS.The identification of GlyR antibodies in patients’sera can promote the diagnosis of SPS.Early diagnosis and prompt immunotherapy are critical to improve clinical symptoms and outcomes of this disease.

关 键 词：甘氨酸受体 谷氨酸脱羧酶 自身抗体 僵人综合征 

分 类 号：R742[医药卫生—神经病学与精神病学]