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T 2低信号影，大多合并颈髓、胸髓甚至腰髓表面T 2低信号影。其中头颅磁敏感加权成像及T 2*较常规T 2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，T 2*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。

abstractsObjective: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 T 2 or blood-sensitive sequences (T 2* 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. T 2WI 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 T 2* 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 carefully.