两种不同表现型的肾上腺脑白质营养不良  

Two different phenotypes of adrenoleukodystrophy

作　　者：付记桐 岳培建[1] 赵莘瑜[1] 李春[1] 张会丽[1] 

机构地区：[1]郑州大学第一附属医院神经内科,河南郑州450052

出　　处：《中风与神经疾病杂志》2017年第3期226-229,共4页Journal of Apoplexy and Nervous Diseases

基　　金：河南省医学科技攻关计划重点项目(No.201502005);河南省科技厅科技攻关项目(No.112102310158)

摘　　要：目的探讨肾上腺脑白质营养不良的临床特征及诊断方法。方法回顾性分析我院就诊的2例肾上腺脑白质营养不良患者的临床表现、影像特征、治疗和随访结果。结果病例1为24岁男性,以行走不稳为首发症状,脑磁共振表现双侧丘脑对称性斑片状稍长T_2信号,血清C_(24)、C_(26)极长链饱和脂肪酸的水平显著增高,ABCD1基因诊断存在c.1849C>T(p.Arg617Cys)半合子突变,进行对症治疗并随访3 m,症状无明显改变;病例2为12岁男性,以癫痫为首发症状,脑磁共振表现双侧颞叶枕叶顶叶白质异常信号影,血清C_(24)、C_(26)极长链饱和脂肪酸的水平增高,ABCD1基因诊断及脑白质营养不良基因诊断均未发现已知致病或者疑似致病突变,经抗癫痫治疗并3 m后随访,癫痫未再发作。结论肾上腺脑白质营养不良的诊断需要结合临床表现及影像学检查,并且血清C_(24)、C_(26)极长链饱和脂肪酸的水平增高是确诊的重要依据。目前主要是对症治疗。Objective To investigate clinical features and diagnose methods of adrenoleukodystrophy. Methods Clinical manifestations,and imaging findings,medical treatment and follow-up study of 2 patients in First Affiliated Hospital of Zhengzhou University were retrospectively reviewed. Results The case 1 is a 24-years-old male with initial symptom of gait abnormality,the bilateral thalamus demonstrated symmetric patchy long or equal T2 signal on brain MRI,and significantly increased leves of very long chain fatty acids（ VLCFA） of serum C24 C26,mutant hemizygote c. 1849 C T（ p.Arg617Cys） in ABCD1 genetic diagnosis,After symptomatic treatment and 3-months follow-up visit,it shows that there is no notable symptom remission. The case 2 is a 12-years-old boy with initial symptom of epilepsy,The brain MRI shows the bilateral temporal lobe,parietal lobe,and occipital lobe white matter abnormal intensities,VLCFA leves of serum C24 C26 increased,negative results in ABCD1 genetic diagnosis and adrenoleukodystrophy genetic diagnosis. After antiepileptic therapy and 3-months follow-up visit,epilepsy did not seizure anymore. Conclusion The diagnose of adrenoleukodystrophy needs to combine clinical manifestation and imageological examination,what,s more,high serum levels of VLCFA are the most significant diagnose method. Currentlly the therapeutic method of this disease is symptomatic treatment primarily.

关 键 词：肾上腺脑白质营养不良 极长链饱和脂肪酸 脑磁共振表现 基因检测 

分 类 号：R745[医药卫生—神经病学与精神病学]