幕下中枢神经系统表面铁沉积症1型7例临床特征及预后分析  

Clinical characteristics and prognosis of type 1 infratentorial superficial siderosis

作　　者：曾译萱 陈淑芬 陈科良 黄钰媛 冯一苇 董丽华[2] 李萌萌 郭钰 赵檬 汤伟军 车薛华 崔梅 董强 郁金泰 Zeng Yixuan;Chen Shufen;Chen Keliang;Huang Yuyuan;Feng Yiwei;Dong Lihua;Li Mengmeng;Guo Yu;Zhao Meng;Tang Weijun;Che Xuehua;Cui Mei;Dong Qiang;Yu Jintai(Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China;Department of Neurology,People's Hospital of Rizhao,Rizhao 276800 China;The First Bethune Hospital of jilin University,Changchun 130000,China;Department of Radiology,Huashan Hospital,Fudan University,Shanghai 200040,China;Department of Anesthesiology,Huashan Hospital,Fudan University,Shanghai200040,China;Department of Neurology,the First Affiliated Hospital of Shenzhen University,Shenzhen Second People's Hospital,Shenzhen 518035,China)

机构地区：[1]复旦大学附属华山医院神经内科,上海200040 [2]山东省日照市人民医院神经内科,日照276800 [3]吉林大学第一医院神经内科,长春130000 [4]复旦大学附属华山医院放射科,上海200040 [5]复旦大学附属华山医院麻醉科,上海200040 [6]深圳大学第一附属医院深圳市第二人民医院神经内科,深圳518035

出　　处：《中华医学杂志》2025年第5期385-388,共4页National Medical Journal of China

基　　金：国家科技部-科技创新2030脑科学与类脑研究重大项目(2022ZD0211600);国家自然科学基金(81300997,82271471);上海市卫生健康委员会新兴交叉领域研究专项(2022JC014)。

摘　　要：回顾性纳入2019年3月至2023年3月复旦大学附属华山医院记忆门诊收治的7例中枢神经系统表面铁沉积症1型(iSS-1)患者, 分析其临床特征及治疗过程, 并随访12个月。7例患者男2例, 女5例, 年龄56(49~60)岁。完成了认知评估的4例患者均存在不同程度的认知障碍, 2例患者存在严重的执行功能受损。采用全脊髓水成像技术筛查iSS-1患者病因, 4例患者存在明确硬膜缺损。对3例存在硬膜缺损的患者开创性地采用了自体血补片治疗, 治疗后3个月内3例患者的体位性头痛、头部昏沉感症状均得到明显缓解;12个月随访时所有患者主观表述听力障碍、步态障碍、共济失调以及认知障碍等症状未再加重, 同时1例患者的认知评分有明显提升。自体血补片治疗的有效性及安全性仍需扩大样本的RCT研究来明确。A total of 7 patients with type 1 infratentorial superficial siderosis(iSS-1)in Memory Clinic at Huashan Hospital,Fudan University from March 2019 to March 2023 were respectively collected to analyze the clinical characteristics and treatment,and followed up for 12 months.There were 7 patients,2 males and 5 females,aged 56(49-60)years.The 4 patients who underwent cognitive assessment had varying degree of cognitive impairment,with 2 patients exhibiting severe executive function impairment.Magnetic resonance myelography imaging was used to screen the etiology of iSS-1 patients.Four patients had clear dural defects,3 of whom accepted autologous blood patch treatment.And all 3 patients were relieved from postural headache and dizziness within 3 months after treatment;symptoms such as hearing loss,unstable walking,ataxia and cognitive impairment remained stable,and 1 patient showed significant improvement in cognitive assessment scores.The efficacy and safety of autologous blood patch treatment still need to be further confirmed by RCT studies of expanded samples.

关 键 词：中枢神经系统 表面铁沉积症 磁共振成像 磁共振脊髓水成像 神经心理评估 

分 类 号：R74[医药卫生—神经病学与精神病学]