目的：总结并分析中枢神经系统受累的噬血细胞性淋巴组织细胞增生症（central nervous system- hemophagocytic lymphohistiocytosis，CNS-HLH）患者的神经系统表现、生化及影像学检查特点、治疗方法及 预后，以加深对该病的临床认识。方法：回顾性分析2022年1月至2024年12月于首都医科大学附属北京 友谊医院诊治的33例CNS-HLH患者的临床资料，并检索PubMed数据库2020年1月至2025年12月报道 的484例CNS-HLH患者文献资料。对2组患者的病因、临床表现、实验室及影像学检查、治疗方案及预后 进行描述性统计分析。结果：我院33例患者中，病因以EB病毒感染（51.5%）和淋巴瘤（24.2%）为主；主要 神经系统表现为意识/精神状态改变（24.2%）及局灶性神经功能缺损（24.2%）；脑脊液检查以压力升高 （75.8%）及蛋白升高（60.6%）多见，头颅MRI异常率为63.3%；治疗上87.9%患者接受鞘内注射，51.5%行异 基因造血干细胞移植，1年生存率为75.8%。文献回顾的484例患者中，病因以EB病毒感染（64.9%）及家 族性遗传缺陷（50.2%）为主；临床表现以癫痫（58%）和意识障碍（39%）多见；脑脊液异常率为83.3%，头颅 MRI异常率达85.6%，病灶多累及大脑半球（74.4%）；治疗上58%采用鞘内注射，仅8%行异基因造血干细 胞移植，总体死亡率为46.3%。结论：CNS-HLH病因以EB病毒感染和遗传性免疫缺陷为多，神经系统表 现缺乏特异性。脑脊液生化异常及头颅MRI特征性改变是诊断的重要依据。早期联合免疫抑制、靶向治 疗及鞘内注射有助于控制病情，异基因造血干细胞移植是改善预后的重要手段，但该病整体死亡率仍较 高，需引起临床高度重视。

To summarize and analyze the neurological manifestations, biochemical and imaging characteristics, treatment methods, and prognosis of patients with central nervous system-hemophagocytic lymphohistiocytosis (CNS-HLH), so as to deepen the clinical understanding of this disease. Methods: A retrospective analysis was conducted on the clinical data of 33 CNS-HLH patients treated at Beijing Friendship Hospital, Capital Medical University, from January 2022 to December 2024. Additionally, the PubMed database was searched for literature reports of 484 CNS-HLH patients published from January 2020 to December 2025. Descriptive statistical analysis was performed on the etiology, clinical manifestations, laboratory and imaging examinations, treatment regimens, and prognosis of the two patient groups. Results: Among the 33 patients from our hospital, the main etiologies were Epstein-Barr virus (EBV) infection (51.5%) and lymphoma (24.2% ). The primary neurological manifestations were alterations in consciousness/mental status (24.2% ) and focal neurological deficits (24.2% ). Cerebrospinal fluid (CSF) examinations most commonly showed elevated pressure (75.8%) and elevated protein levels (60.6%), while the abnormality rate on cranial MRI was 63.3%. In terms of treatment, 87.9% of patients received intrathecal injection, and 51.5% underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), with a 1-year survival rate of 75.8%. Among the 484 patients reviewed from the literature, the main etiologies were EBV infection (64.9%) and familial genetic defects (50.2% ). Clinical manifestations were predominantly epilepsy (58% ) and disturbance of consciousness (39% ). The CSF abnormality rate was 83.3%, and the cranial MRI abnormality rate reached 85.6% , with lesions most frequently involving the cerebral hemispheres (74.4% ). Regarding treatment, 58% received intrathecal injection, while only 8% underwent allo-HSCT, and the overall mortality rate was 46.3% . Conclusion: The etiology of CNS-HLH is predominantly EBV infection and hereditary immunodeficiency, and its neurological manifestations lack specificity. Biochemical abnormalities in CSF and characteristic changes on cranial MRI are crucial for diagnosis. Early combined immunosuppression, targeted therapy, and intrathecal injection are helpful for controlling the disease. Allogeneic hematopoietic stem cell transplantation is an important means to improve prognosis; however, the overall mortality rate remains high, warranting high clinical vigilance.