腓骨肌萎缩症X型伴有可逆性中枢神统系统受累

Charcot Marie Tooth type X with reversible central nerve system disorders

目的探讨的腓骨肌萎缩症X型的临床特点和引起中枢神经系统受累可能的发病机制。方法报道1例国内未报道过的CMTX可引起中枢神经系统受累Cx32基因突变,分析该例患者的临床、电生理及病理改变特点。结果该患者为基因检查确诊Arg424Trp(R142W)突变的CMTX。临床存在可逆性眼震,电生理提示感觉运动神经受累均受累,轴索髓鞘均损害。肌肉活检提示慢性神经源性病理改变。周围神经活检示周围神经髓鞘损害为主。BAEP提示可逆性中枢性损害。结论 R142W突变的CMTX可以在应激条件下出现可逆性中枢神经系统损害。

Objective To investigate the clinical features of Charcot Marie Tooth X （ CMTX） and possible pathogenesis of central nervous system involved.Methods Cx32 gene mutations in 1 cases of with central nervous system disorded were reported, and the clinical, electrophysiological and pathological characteristics of the patient was analyzed retrospectively.Results The Arg424Trp（R142W） mutation of the CMTX gene was confirmed.The clinical presence of reversible nystagmus, electrophysiological prompt sensory and motor nerve were involed with axonal myelin damage.Muscle biopsy indicated that the chronic axonal peripheral nerve pathological changes.BAEP indicated that the reversibility of the central nervous system damage.Conclusion The R142W mutation of CMTX can appear to be reversible central nervous system damage under the stress conditions.