富亮氨酸胶质瘤失活1蛋白抗体阳性边缘叶脑炎临床分析

目的分析富亮氨酸胶质瘤失活1蛋白(leucine-rich glioma inactivated 1,LGi1)抗体相关边缘性脑炎(Limbic encephalitis,LE)的临床特点、诊断及治疗。方法回顾性分析7例LGi1抗体相关LE患者的临床资料、实验室和电生理、影像学检查结果及治疗和预后。结果 7例患者发病年龄22~72岁,男女比例5∶2,7例患者均有精神行为异常、认知功能下降的临床表现。6例患者有癫痫发作,4例出现面臂肌张力障碍(FBDS)。3例脑电图出现慢波或癫痫样波。3例患者MRI检查可见颞叶海马异常信号影。5例患者有低钠血症。6例患者脑脊液氯化物低。所有患者血清LGi1抗体阳性,6例患者脑脊液LGi1抗体阳性。5例合并其他血清自身抗体,所有患者均未发现肿瘤,所有患者经免疫治疗均有效。结论 LGi1抗体相关LE以认知功能障碍、精神行为异常、癫痫发作为主要临床表现,常伴有低钠血症,很少合并肿瘤,头部MRI以颞叶、海马受累为主,免疫治疗有效。

The clinical analysis of LGi1-antibody-related limbic encephalitis

Objective To analysis the clinical character,diagnosis and therapy of Leucine-rich glioma inactivated-1 (LGi1) antibody associated limbic encephalitis.Methods We retrospectively analyzed the clinical phenotypes,laboratory,ECG,imaging data,therapy and prognosis of 7 patients with LGi1-LE.Results 7 patients ranging in age from 22 to 72 years,male female ratio is 5∶2.All patients presented with psychiatric symptoms and cognitive dysfunction.Among the 8 patients,6 presented with seizures,while 4 patients experienced faciobrachial dystonic seizures (FBDS).3 patients were found abnormal electroencephalographs,with 3 patients showed abnormal temporal hippocampus signals on MRI.5 patients had hyponatremia.Six of the 7 patients had decreased chlorine concentrations in cerebrospinal fluid (CSF) examination.The positive of anti-LGi1 antibody of serum was 100%,while it was 85.7% in CSF.Other serumal autoantibodies were found in 5 patients.Screening for malignant tumors of all revealed normal findings.Immunomodulatory therapy were effective to all patients.Conclusion Most patients with LGi1-LE not only develop the classic syndromes of limbic encephalitis,such as psychiatric symptoms,cognitive dysfunction and seizures,but also have hyponatremia and a weak association with cancer.MRI scans mainly show abnormal temporal hippocampus signals.The respond to immunotherapy is kind.