两种不同表现型的肾上腺脑白质营养不良

发布时间：2018-01-21 10:18

  本文关键词： 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　出处：《中风与神经疾病杂志》2017年03期 　论文类型：期刊论文

【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.1849CT(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。
[Abstract]:Objective to investigate the clinical features and diagnostic methods of adrenal leukodystrophy. Methods the clinical and imaging features of 2 patients with adrenal leukodystrophy were retrospectively analyzed. Results case 1 was a 24-year-old male, with walking instability as the first symptom, bilateral thalamic symmetrical plaque slightly longer T _ 2 signal on MRI, serum Che _ 2). The level of extremely long chain saturated fatty acids (VLFA) was significantly increased in the diagnosis of ABCD1 gene with c. 1849 CTP. Arg617 Cys.) haplozygote mutation. Symptomatic treatment was performed and followed up for 3 m.The symptoms did not change significantly. Case 2 was a 12-year-old male, with epilepsy as the first symptom, abnormal white matter signal in the parietal lobe of the temporal temporal lobe on MRI, and a high level of very long chain saturated fatty acids in serum C _ (+ +) _ (24) and C _ (26) in the parietal lobe of the temporal lobe. ABCD1 gene diagnosis and leukodystrophy gene diagnosis showed no known pathogenicity or suspected mutation, and were treated with antiepileptic therapy and followed up for 3 m. Conclusion the diagnosis of adrenal leukodystrophy should be combined with clinical manifestation and imaging examination, and serum Cass 24). High level of very long chain saturated fatty acids is an important basis for diagnosis.
【作者单位】： 郑州大学第一附属医院神经内科;
【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)
【分类号】：R741
【正文快照】： 肾上腺脑白质营养不良(adrenoleukodystrophy,ALD)是一种罕见的、致命的神经变性疾病[1],其病因主要是ATP结合匣D亚组膜1(ABCD1)基因发生突变后,其表达的ALD蛋白(ALDP)功能异常,使得极长链脂肪酸(VLCFAs)不能转膜进入细胞溶酶体进行脂肪酸氧化,VLCFAs在细胞和体液内异常堆积,，

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