国内中枢神经系统表面铁沉积临床特征探究——附病例报道一例

Clinical Characteristics of Superficial Siderosis of the Central Nervous System in China:One Case Report and Literature Review

目的:探讨中枢神经系统表面铁沉积(superficial siderosis of the central nervous system,SSCNS)的发病机制、病因、临床和影像学特点及治疗方法。方法:报道1例经临床、影像学及活检病理确诊的SSCNS病例,通过检索CNKI、万方、维普数据库,对国内报道的62例SSCNS患者的临床资料进行分类统计。结果:本文报道的患者主要表现为双耳感音性听力减退、小脑性共济失调、认知减退及锥体束征,MRI具有典型中枢神经系统表面低信号改变,病理活检普鲁士蓝染色阳性,最终诊断为病因不明的经典型幕下铁沉积。检索出的病例也多以听力下降(52/62例)、共济失调(55/62例)、锥体束征(40/62例)等典型SSCNS三联征为主要表现,影像学上均有相应改变,大多数病因不明(43/62例),其中9例行驱铁治疗,6例行手术治疗,转归差异较大。结论:SSCNS是一种罕见的变性疾病,典型临床表现结合MRI磁敏感序列检查是目前的主要诊断手段,活检病理有助于确诊,但目前尚无明确有效治疗方法。

Objective:To investigate the pathogenesis,etiology,clinical manifestation,imaging characteristics,and treatment of superficial siderosis of the central nervous system(SSCNS).Methods:One Case of SSCNS diagnosed by imaging,biopsy pathology,and clinical methods was included.Clinical data of 62 patients in China were extracted from the China National Knowledge Internet,Wanfang,and China Science and Technology Journal Database.The cases were reviewed,classified,and analyzed by descriptive statistical analysis.Results:The major clinical manifestations of the case were sensorineural hearing loss in both ears,cerebellar ataxia,cognitive impairment,and pyramidal sign.SSCNS was finally diagnosed as classical infratentorial superficial siderosis of unknown etiology.Magnetic resonance imaging(MRI)showed characteristic marginal hypo-intensity around the central nervous system,and pathological biopsy showed Prussian blue positive staining on the pia mater.All 62 patients mainly presented with a combination of sensorineural hearing loss(52/62),cerebellar ataxia(55/62),pyramidal sign(40/62),and other typical SSCNS triads,with corresponding imaging changes.However,the majority(43/62)were of unknown etiologies.Nine patients received iron chelation therapy,while six received surgical intervention,with varying outcomes.Conclusion:SSCNS is a rare degenerative disease mainly diagnosed by a combination of iron-sensitive MRI sequences and typical clinical manifestations.Although brain biopsy can further support the diagnosis,there remains no effective treatment to date.