Wiskott-Aldrich综合征合并中枢神经系统脱髓鞘病变一例并文献复习

Wiskott-Aldrich syndrome complicated with demyelinating disease of the central nervous system：report of one case and literature review

目的 通过报道1例典型Wiskott-Aldrich综合征（WAS）患儿临床特点结合文献复习,探讨该病与中枢神经系统自身免疫性疾病的相关性及可能的发病机制.方法 报道1例WAS合并神经系统脱髓鞘病变患儿.分析患儿的临床特征、实验室检查（包括血常规、免疫功能等）以及影像学特点,并提取患儿外周血中DNA行基因检测,同时复习相关文献.结果 该患儿具有湿疹、血小板减少及免疫缺陷等典型WAS特征,并伴有中枢神经系统脱髓鞘病变.其基因检测结果为C400G＞C p.（ALa134Pro）.ALa134Pro突变,为错义突变,翻译蛋白中第134位氨基酸残基由丙氨酸变为脯氨酸.该患儿合并有中枢神经系统脱髓鞘病变,引发我们关注其发病机制,国内尚无WAS合并中枢神经系统脱髓鞘病变的报道和研究,参阅国外研究结果,其发病可能由其突变基因引起.结论 WAS患儿合并中枢神经系统脱髓鞘病变可能由其突变基因导致WAS蛋白表达障碍,进一步引起非红系造血细胞对外界刺激反应时的信号传导和细胞骨架组合障碍,造成淋巴细胞迁移、信号传导及免疫突触形成异常.

Objective To discuss the correlation of Wiskott-Aldrich syndrome （WAS） with autoimmune disease of the central nervous system and its possible pathogenesis by reporting one case of the disease and reviewing related literature.Methods One case of WAS complicated with demyelinating disease of the central nervous system was reported.The patient＇ s clinical symptoms,laboratory examinations （such as blood tests,immune function tests,etc） and imaging features were analyzed.The patient＇s blood DNA was extracted and performed gene testing.And related literature was reviewed.Results The patient showed typical clinical symptoms of WAS,including eczema,thrombocytopenia and immune deficiency,complicated with demyelinating disease of the central nervous system.The DNA testing showed C400G 〉 C p.（ALa134Pro） mutation,which is a missense mutation.The 134th amino acid in protein was changed from alanine to proline.The patient also showed the symptoms of demyelinating disease of the central nervous system,which drew our attention.This was the first report on WAS complicated with demyelinating disease of the central nervous system,which was perhaps caused by a gene mutation.Conclusions WAS complicated with demyelinating disease of the central nervous system is possibly resulted from the gene mutation,which leads to the expression disorder of WAS protein.And then non-red hematopoietic cells lead to signal transduction and cytoskeleton recombination disorders in response to environment stimulus,which produces lymphocytes immigration,signal transduction and immune synaps formation disorders.