中枢神经系统表面铁沉积症的临床特征和病因分析  

The clinical features and etiology analysis of superficial siderosis of the central nervous system

作　　者：杨英麦[1] 钱敏[1] 郝红林 魏妍平[1] 刘彩燕[1] 柳青[1] 沈航[1] 刘智[1] 万新华[1] Yang Yingmai;Qian Min;Hao Honglin;Wei Yanping;Liu Caiyan;Liu Qing;Shen Hang;Liu Zhi;Wan Xinhua(Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院神经科,北京100730

出　　处：《中华神经科杂志》2022年第2期125-132,共8页Chinese Journal of Neurology

基　　金：国家自然科学基金(81971074)。

摘　　要：目的总结中枢神经系统表面铁沉积症的临床及影像学特点,并进行病因分析,以便对该罕见病进行早期诊断和病因干预治疗。方法回顾性收集2013年5月至2019年11月在北京协和医院神经科住院的神经系统表面铁沉积症病例,总结其临床、影像学特征,分析其可能的病因,并进行电话随访。结果最终共收集7例神经系统表面铁沉积症患者,男性3例,女性4例,平均年龄53岁(41~58岁)。临床表现主要包括感音神经性耳聋(7例)、走路不稳(7例)及锥体束征(7例),其他包括头晕(6例)、大小便障碍(5例)、头痛(3例)、复视(2例)、认知障碍(1例)等。头颅及脊髓磁共振检查发现7例患者均可见小脑、脑干、颈髓或颅颈交界周边T2低信号影,大多合并颈髓、胸髓甚至腰髓表面T2低信号影。其中头颅磁敏感加权成像及T2*较常规T2序列低信号更明显。7例患者均有小脑萎缩。可能的病因诊断为可疑外伤史(3例);影像学发现椎管内积液(3例),提示硬膜缺损,其中1例椎管内积液患者合并骶管内占位;7例患者均伴有可能导致硬膜缺损的脊椎退变。预后随访结果显示2例失访,其余5例患者均有不同程度的症状加重。结论经典的中枢神经系统表面铁沉积症为罕见病,临床主要表现为慢性进展的听力下降、共济失调及双侧锥体束征三联征,需与神经系统变性病尤其脊髓小脑共济失调鉴别。磁共振影像学表现较为特异,T2*梯度回波序列、磁敏感加权成像诊断敏感度较高。各种病因导致的硬膜缺损为该病最常见的原因。Objective To summarize the clinical manifestation and imaging of superficial siderosis of the central nervous system and explore the potential etiology.Methods The clinical and imaging data of 7 patients diagnosed as superficial siderosis of the central nervous system in Peking Union Medical College Hospital from May 2013 to November 2019 were retrospectively reviewed.The etiology and follow-up prognosis through phone call were analyzed.Results There were 7 patients included(3 male and 4 female)with an average age of 53 years(41-58 years).The cardinal manifestations were sensorineural deafness(all 7 cases),cerebellar ataxia(all 7 cases)and pyramidal signs(all 7 cases).Dizziness(6 cases),bladder disturbance(5 cases),headache(3 cases),double vision(2 cases)and congnitive impairment(1 case)could also happen.Magnetic resonance imaging showed symmetrical well-defined curvilinear homogeneous low signal on T2 or blood-sensitive sequences(T2*gradient echo or susceptibility-weighted imaging)over the superficial surface of cerebellar,brain stem,and spinal cord or cranio-cervical junction.All the 7 patients showed cerebellar atrophy especially the upper vermis.The potential causes included trauma history in 3 cases,intraspinal fluid-filled collection which indicated dural defect or duropathologies in 3 cases,intraspinal mass in 1 case and vertebral and disc degeneration in all 7 patients.The 5 patients who successsfully got follow-up showed exacerbation of variable degree.Conclusions Classical superficial siderosis of the central nervous system is a rare disease with cardinal manifestation of progressive ataxia,sensorineural deafness and pyramidal signs.T2WI of magnetic resonance imaging showing low signal over the superficial surface of cerebellar,brain stem,and spinal cord could indicate the diagnosis,and blood-sensitive sequences such as T2*gradient echo or susceptibility-weighted imaging were more sensitive.Duropathologies or dural defect may be the most probable causes of the disease and should be examined and treated

关 键 词：中枢神经系统 表面铁沉积症 磁共振成像 

分 类 号：R741[医药卫生—神经病学与精神病学]