Clinical and imaging features of anti-GABA-B receptor encephalitis
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摘要:
目的 探讨抗γ-氨基丁酸B（GABA-B）受体脑炎患者的临床表现、实验室检查及影像学特点。 方法 选取我院2021年5月~2022年11月临床资料完整、符合《中国自身免疫性脑炎诊治专家共识（2022年版）》中自身免疫性边缘性脑炎的诊断标准，并经免疫学检查确诊为抗GABA-B受体脑炎的患者3例，收集其临床表现、脑脊液检查、免疫学检查、脑电图、影像学检查等资料进行回顾性分析。 结果 3例患者均急性起病，以癫痫发作为首发症状或主要临床表现，伴不同程度的认知功能障碍及精神行为异常。3例患者发病时均合并肿瘤，分别为多发性骨髓瘤、肺癌及鼻咽癌。脑脊液及血清免疫学提示脑脊液和（或）抗GABA-B受体抗体阳性。脑电图均异常，呈癫痫样放电、散在分布或弥漫性慢波。影像学检查见病灶累及单侧海马，头颅CT呈低密度影，头颅MRI呈长T1、长T2信号，T2 FLAIR高信号，DWI高信号，ADC呈等或稍高信号。 结论 抗GABA-B受体脑炎患者以癫痫发作为主要表现，易合并肿瘤。抗GABA-B受体脑炎合并鼻咽癌为首次报道，扩展了疾病谱。 Abstract:Objective To investigate the clinical manifestations, laboratory and imaging features of patients with anti-GABA-B receptor encephalitis. Methods Three patients with anti-GABA-B receptor encephalitis were selected from our hospital from May 2021 to November 2022 with complete clinical data and in accordance with the diagnostic criteria of autoimmune peripheral encephalitis in the Consensus of Chinese Experts on the Diagnosis and Treatment of Autoimmune Encephalitis (2022 edition). Clinical manifestations, cerebrospinal fluid (CSF), immunological, electroencephalogram and imaging examinations of 3 patients of anti-GABA-B receptor encephalitis were analyzed retrospectively. Results All the 3 patients suffered from acute onset with epilepsy as first symptom or main clinical manifestation, accompanied by cognitive dysfunction and mental behavior abnormality of different degrees. All the 3 patients were complicated with tumors, including multiple myeloma, lung cancer and nasopharyngeal carcinoma. Immunological examinations of CSF and serum indicated that CSF and/or serum anti-GABA-B receptor antibody were positive. Electroencephalogram were abnormal, showing epileptic discharge, scattered distribution or diffuse slow wave. Imaging examinations showed that the lesion involved unilateral hippocampus, brain CT showed low density, MRI showed long T1 signal, long T2 signal, high T2 FLAIR signal, high DWI signal, slight high or equal ADC signal. Conclusion Patients with anti-GABA-B receptor encephalitis suffered from epilepsy as main manifestation and are prone to tumor. We reported that anti-GABA-B receptor encephalitis combined with nasopharyngeal carcinoma for the first time, which expands the disease spectrum. -
图 1 患者1头颅CT、MRI及胸部CT结果
A: 头颅CT; B: 头颅MR T1WI序列; C: 头颅MR T2WI序列; D: 头颅MR FLAIR序列; E: 头颅MR DWI序列; F: 治疗2月后头颅MR FLAIR序列; G: 治疗2月后头颅MR增强扫描; H: 胸部CT.
Figure 1. Results of brain CT, MRI and chest CT of patient 1.
图 2 患者2头颅MRI及胸部CT结果
A: 头颅MR T1WI序列; B: 头颅MR T2WI序列; C: 头颅MR FLAIR序列; D: 头颅MR DWI序列; E: 头颅MR ADC序列; F: 胸部CT.
Figure 2. Results of brain MRI and chest CT of patient 2.
图 3 患者3头颅CT及MRI结果
A: 头颅CT; B: 头颅MR T1WI序列; C: 头颅MR T2WI序列; D: 头颅MR FLAIR序列; E: 头颅MR DWI序列; F: 头颅MR ADC序列.
Figure 3. Results of brain CT and MRI of patient 3.
表 1 抗GABA-B受体脑炎患者一般资料
Table 1. General information of patients with anti GABA-B receptor encephalitis
患者 性别 年龄（岁） 主诉/首发症状 合并肿瘤 其他既往史 认知功能 1 男 74 意识障碍、肢体抽搐2 d 多发性骨髓瘤 无特殊 MMSE评估不配合 2 男 64 嗜睡、精神反应迟钝1 d 肺部恶性肿瘤 无特殊 MMSE评估不配合 3 男 55 发作性愣神、口角抽搐1 d 鼻咽癌伴肺转移 高血压病 MMSE：18分（本科文化） MMSE: 简易智能精神状态检查量表. 
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表 2 抗GABA-B受体脑炎患者实验室检查
Table 2. Laboratory tests of patients with anti GABA-B receptor encephalitis
患者 CSF压力（mmH2O） CSF白细胞(×106/L) CSF蛋白（g/L） CSF抗GABA-B受体抗体 血清抗GABA-B受体抗体 CSF病原学 血液肿瘤标志物 1 85 4 300.5 阳性（1:3.2） 阳性（1:32） 阴性 CYFRA21-1：3.46（0~3.3）ng/mL，AFP、CA-199、CEA、fPSA、NSE、SCC、tPSA均在正常范围 2 110 146 547.10 未查 阳性（1:100） 阴性 NSE：18.53（0-15, 2）ng/mL，ProGRP：1205（0-68.3）pg/mL，CA-125、CA-199、CA-24-2、CA50、CA-724、CEA、Cyfra21-1、fPSA、NSE、SCC、tPSA、ProGRP均在正常范围 3 150 2 363.9 阴性 阳性（1:10） 阴性 CEA、fPSA、tPSA均在正常范围 GABA-B: γ-氨基丁酸B; CSF: 脑脊液; AFP: 甲胎蛋白; CA-125: 糖类抗原125; CA-199: 糖类抗原199; CA-24-2: 糖类抗原24-2; CA-50: 糖类抗原50; CA-724: 糖类抗原724; CEA: 癌胚抗原; Cyfra21-1: 细胞角蛋白19片段; fPSA: 游离列腺特异性抗原; NSE: 神经元特异性烯醇化酶; SCC: 鳞状细胞癌相关抗原; tPSA: 总前列腺特异性抗原; ProGRP: 胃泌素释放肽前体.
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表 3 抗GABA-B受体脑炎患者影像学特点
Table 3. Imaging characteristics of patients with anti GABA-B receptor encephalitis
患者 头颅CT 头颅MRI 头颅磁共振血管造影 胸部CT 1 左侧海马低密度影 左侧海马异常信号 脑动脉硬化 未见肺部肿瘤；胸椎多发椎体压缩骨折，多发肋骨及胸椎骨质改变，符合多发骨髓瘤表现 2 左侧海马低密度影 左侧海马异常信号 脑动脉硬化、脑动脉多处轻度狭窄 肺癌伴纵膈淋巴结、左侧肾上腺转移 3 右侧海马低密度影 右侧海马异常信号 未查 右肺上叶占位切除术后改变
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