家族性多发性硬化2例报告并文献复习

Two case reports of familial multiple sclerosis and literature review

目的结合文献复习,通过对家族性多发性硬化(MS)的病例分析,探讨MS的病因及发病机制。方法报告一家系中两姐妹同患MS,对其临床表现、实验室检查、影像学特点进行总结分析。结果该家系中2例病例作为受累同胞对,发病年龄相近,临床表现相似,主要累及病灶部位为脊髓,均呈复发缓解病程。结论 MS有家族聚集现象,亲属的发病风险明显增高,MS的基因表达受多种因素影响,其发病取决于易感基因与环境因素交互作用。

Objective To discuss the etiology and pathogenesis of multiple sclerosis（ MS） by studying one familial MS case and reviewing literatures. Methods Two sisters in one family were reported suffering from MS,whose clinical manifestations,laboratory tests and imaging characteristics were analyzed. Results As affected sib pair,the two patients were found to have similar onset age,clinical manifestations,lesions in the spinal cord,relapsing-remitting course as well.Conclusion MS leans to familial aggregation,the risk for relatives is significantly increased. The gene expression of MS is affected by many factors,and its incidence depends on the interaction between susceptible genes and environmental factors.