1例肾上腺脊髓神经病病例报道及文献回顾  

Report of a case of adrenomyeloneuropathy and literature review

作　　者：林永强[1] 刘子凡[1] 许治强[1] 梁燕玲[1] 李斯颖[1] LIN Yongqiang;LIU Zifan;XU Zhiqiang;LIANG Yanling;LI Siying(Department of Neurology,Third Affiliated Hospital,Guangzhou Medical University, Guangzhou,Guangdong 510150,China)

机构地区：[1]广州医科大学附属第三医院神经内科,广州510150

出　　处：《重庆医学》2018年第21期2790-2795,共6页Chongqing medicine

基　　金：广东省中医药局科研课题(20121137);广州医学院第三附属医院青年科研支持计划项目(2011Y07)

摘　　要：目的探讨肾上腺脊髓神经病的病因、临床特征、诊断与治疗。方法对1例肾上腺脊髓神经病病例的临床症状、体征、辅助检查、治疗与预后进行报道,并对国内外相关文献进行回顾。结果该患者极长链脂肪酸的测定均大于正常值范围,基因检测显示chrX:152994732半合子变异,一代测序验证位点为c.C946T。结论肾上腺脊髓神经病临床上少见,极长链脂肪酸的测定及基因检测有利于早期诊断,目前治疗并不能阻止病情进展。Objective To explore the etiology,clinical features,diagnosis and treatment of adrenomyeloneuropathy in order to arouse the attention of neurological physicians.Methods The clinical symptoms,signs,assisted examinations,treatment and prognosis in 1 case of adrenomyeloneuropethy were reported,and then the related domestic and abroad literatures were reviewed.Results The detected levels of very long chain fatty acids were greater than the normal value range.The gene detection showed the variation of chrX:152994732 hemizygote.One generation sequencing verification site was c.C946T.Conclusion Adrenomyeloneuropethy is rare in clinic.The detection of very long chain fatty acids and gene detection are conducive to early diagnosis.Current treatment can not prevent the progress of the disease.

关 键 词：肾上腺脑白质营养不良 肾上腺脊髓神经病 极长链脂肪酸 

分 类 号：R744[医药卫生—神经病学与精神病学]