1例抗IgLON家族蛋白5抗体相关脑病的病例报告

A case report with anti-IgLON family member 5 antibody-related encephalopathy

摘要: 本研究报道1例50岁女性患者, 表现为认知障碍和睡眠障碍，伴自主神经功能障碍、癫痫发作，脑脊液抗IgLON家族蛋白5(IgLON5)抗体阴性，血清抗IgLON5抗体阳性，基因检测人类白细胞抗原(HLA)阴性，诊断为抗IgLON5抗体相关脑病。患者入院后予甲泼尼龙冲击联合静脉注射免疫球蛋白免疫治疗、多奈哌齐改善认知、丙戊酸钠和奥卡西平抗癫痫发作，症状明显改善。

Abstract: This study reported a 50-year-old female patient who was diagnosed with anti-IgLON family member 5 (anti-IgLON5) antibody-related encephalopathy, presented with cognitive and sleep disorders, autonomic dysfunction and seizures, positive serum IgLON5 antibody but negative cerebrospinal fluid IgLON5 antibody, negative human leukocyte antigen (HLA) by genetic testing, and was diagnosed as anti-IgLON5 antibody-related encephalopathy. After hospital admission, the patient was given intravenous methylprednisolone combined with immunoglobulin immunotherapy, donepezil for improvement of cognition, sodium valproate and oxcarbazepine for prevention and treatment of epileptic seizures, and finally her symptoms improved significantly.