以痉挛性截瘫为主要表现且不伴有脑白质异常信号的肾上腺脑白质营养不良的误诊分析(附3例报告)  

Analysis of misdiagnosis of adrenal leukodystrophy characterized with spasmodic paraplegia but without abnormal cerebral white matter signals(report of 3 cases)

作　　者：卢岩[1] 刘艳秋[1] 张新卿[1] 矫黎东[1] 高乐虹[1] 王宪玲[1] LU Yan LIU Yan-qiu ZHANG Xin-qing et al(Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing 100053, China)

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《临床神经病学杂志》2017年第5期373-376,共4页Journal of Clinical Neurology

摘　　要：目的探讨以痉挛性截瘫为主要表现且不伴有脑白质异常信号的肾上腺脑白质营养不良(ALD)的临床特点,以免误诊为遗传性痉挛性截瘫(HSP)。方法回顾性分析3例曾误诊为HSP的经基因检测确诊的以痉挛性截瘫为主要表现且不伴有脑白质异常信号的ALD患者的临床资料。结果 3例患者均隐袭起病,缓慢进展,临床表现为显著的痉挛性截瘫,伴或不伴自主神经或周围神经损害,影像学均未见脑白质异常信号,临床诊断均怀疑为HSP,后经基因检测确诊为肾上腺脊髓神经病(AMN)。基因测序结果分别为ABCD1基因exon 2的c.961_963del缺失突变,ABCD1基因exon 1的c.310C>T错义突变,ABCD1基因exon 3的c.1202G>A错义突变。例1及例3家系验证示,二者母亲均存在相应基因突变。结论 AMN是ALD的一种亚型,以双下肢痉挛性截瘫为主要表现,不伴有脑白质异常信号的患者易被误诊为HSP。因此,对临床上怀疑HSP的患者,尤其是男性患者,应进行极长链脂肪酸筛查,有条件者应行基因检测,以鉴别ALD。Objective To ovserve the clinical features of adrenal leukodystrophy（ ALD） characterized with spasmodic paraplegia but without abnormal cerebral white matter signals,and to avoid to be diagnosed as hereditary spastic paraplegia（ HSP）. Methods The clinical data of 3 ALD patients who were main characterized as spasmodic paraplegia and without abnormal cerebral white matter signals and misdiagnosed as HSP were reviewed retrospectively. Results Three patients were all manifested as significant spastic paraplegia with an insidious onset and slow progression,and with or without autonomic nerve or peripheral nerve impairment. There were no abnormal signals in the brain white matter. Three patients were all diagnosed as adrenomyeloneuropathy（ AMN） by next generation sequencing after the misdiagnosis as HSP. Gene sequencing showed that ABCD1 gene exon 2 c. 961_963 del deletion mutantion,ABCD1 gene exon 1 c. 310 C T missense mutation and ABCD1 gene exon 3 c. 1202 G A missense mutation,separately. The family verification of case 1 and case 2 showed that both of their mothers had corresponding genetic mutations. Conclusions AMN is one clinical manifestation of ALD,characterized as spastic paraplegia in the lower limbs. Patients without abnormal siginals in brain white matter are easily to be misdiagnosed as HSP. So plasma very long chain fatty acids（ VLCFA） testing or gene testing should be used for the patients who are clinically suspected HSP,especially in male patients,in order to identify ALD.

关 键 词：肾上腺脑白质营养不良 肾上腺脊髓神经病 遗传性痉挛性截瘫 基因检测 鉴别诊断 

分 类 号：R596[医药卫生—内科学] R747.9[医药卫生—临床医学]