摘要：

目的: 报告国内首例抗神经丝重链抗体相关脑炎病例，并复习相关文献，总结抗神经丝重链抗体相关脑炎的临床特征。方法与结果: 1例63岁女性抗神经丝重链抗体相关脑炎患者临床表现为认知功能障碍、反复癫痫发作、失语；头部MRI显示双侧额顶叶多发异常信号，部分脑回略肿胀，幕上脑室系统扩张，脑萎缩以双侧颞叶、海马为甚；¹⁸F-DPA714 PET/MRI显示额颞顶枕叶多脑区局灶性摄取异常增高，提示神经炎症；脑电图呈频繁痫样放电；脑脊液白细胞计数和葡萄糖升高，血清和脑脊液自身免疫性脑炎相关抗体阴性，血清TBA法显示小脑神经丝样荧光包绕浦肯野细胞，进一步检测抗神经丝蛋白抗体，血清抗神经丝重链抗体强阳性（1∶1000）。临床诊断为抗神经丝重链抗体相关脑炎，予静脉注射免疫球蛋白和甲泼尼龙治疗，预后改善。结论: 抗神经丝重链抗体相关脑炎临床罕见，临床表现多样，早期诊断与鉴别诊断困难，早期予以免疫治疗对预后至关重要。

关键词: 脑炎, 自身免疫疾病, 神经微丝蛋白质类, 自身抗体, 脑脊髓液

Abstract:

Objective: To report and analyze the clinical features of the first documented case in China of anti-neurofilament heavy chain (NfH) antibody-associated encephalitis. Methods and Results: A 63-year-old female presented with cognitive impairment, recurrent epileptic episodes, and aphasia. Head MRI showed multiple abnormal signals in bilateral frontal and parietal lobes, and slight swelling in some gyri, dilatation of the supratentorial ventricular system and brain atrophy, especially in bilateral temporal lobes and hippocampus. ¹⁸F-DPA714 PET/MRI showed abnormal uptake in multiple brain regions in the frontal, temporal, parietal and occipital lobes, suggesting neuroinflammation in the brain. EEG showed frequent epileptiform discharges. Cerebrospinal fluid white cell count and glucose were elevated. Serum and cerebrospinal fluid antibodies related to autoimmune encephalitis were negative. Serum tissue-based indirect immunofluorescence assay showed cerebellar neurofilament-like fluorescence surrounding Purkinje cells, further detection of neurofilament protein-related antibodies, it suggested high titer of serum NfH-IgG (1∶1000). The patient was diagnosed with anti-NfH antibody-associated encephalitis. After treatment with intravenous immunoglobulin and methylprednisolone, the prognosis was improved. Conclusions: Anti-NfH antibody-associated encephalitis is a rare and clinically complex condition. The myriad of symptoms complicates early diagnosis and differential identification. Early initiation of immunomodulatory therapy may offer prognostic advantages.

Key words: Encephalitis, Autoimmune diseases, Neurofilament proteins, Autoantibodies, Cerebrospinal fluid