肾上腺脑白质营养不良的临床及影像学特征  

Analysis of the clinical and imaging features of adrenoleukodystrophy

作　　者：宋丽芳[1] SONG Lifang(Children＇s Hospital of Zhengzhou, Henan, Zhengzhou 450000, Chin)

机构地区：[1]郑州市儿童医院,河南郑州450000

出　　处：《包头医学院学报》2017年第6期13-14,共2页Journal of Baotou Medical College

基　　金：郑州市科技计划项目(20150159)

摘　　要：目的:探讨肾上腺脑白质营养不良(adrenoleukodystrophy,ALD)的临床特点及影像学特征。方法:采用气相色谱技术测定血浆长链脂肪酸(very long chain fatty acids,VLCFA)水平;进行脑脊液常规检查和生化检查;分析患者的临床特征、实验室检查结果以及脑部CT或MRI影像学特征。结果:160例患者中有87例(54.4%)出现听力下降,有48例(30.0%)出现记忆力明显下降,有121例(75.6%)出现肢体活动不便;160例ALD患者中,102例患者(63.8%)生化指标检测正常,48例患者(30.0%)脑脊液白细胞计数高于正常水平,51例患者(31.9%)脑脊液蛋白水平高于正常;患者二十六碳烷酸水平为(0.87±0.21)μg/m L[正常参考值(0.23±0.09)μg/m L],二十四碳烷酸/二十二碳烷酸为(1.65±0.52)[正常参考值(0.84±0.10)];脑部CT检查结果显示,患者大脑后部顶枕白质区域呈对称性密度减低;MRI图像显示,患者出现典型的蝶形病灶病变,脑室两侧后角周围以及枕叶白质区呈对称性蝶翼状长T1及T2信号。结论:患者的临床表现、血浆VLCFA水平及影像学特征可以作为临床ALD的诊断提供依据。Objective ：To explore the clinical and imaging features of adrenoleukodystrophy （ALD）. Methods： The levels of very long chain fatty acids （ VLCFA ） in plasma were determined by gas chromatography; cerebrospinal fluid （CSF） routine examination and biochemical examina- tion were performed; the clinical features, laboratory findings, and CT or MRI imaging features of the brain were analyzed. Results： In 160 cases, 87 cases （54.4 % ） had hearing loss, 48 cases （30.0 % ） had a marked decrease in memory, and 121 cases （75.6 % ） suffered from limb move- ments. In 160 patients with ALD, 102 patients （63.8 % ） had normal biochemical parameters, 48 patients （30.0 % ） had higher white blood counts, and 51 patients （ 31.9 % ） had higher levels of CSF protein. The level of serum twenty - six carbon acid was （0.87 ± 0.21 ） μg/mL [ The normal reference value was （0.23 ± 0.09 ）μg/mLl , Twenty- four carbon acid / twenty- two carbon acid was （1.65 ± 0.52 ） [ The normal refer- ence value was （0.84 ± 0.10 ） ]. Brain CT examination revealed a symmetrical density reduction in the posterior occipital white matter area of the brain. The MRI images showed that the patient presented with a typical butterfly lesion, with symmetrical butterfly, long wing T1 and T2 signals in both the posterior horn and the occipital white matter area. Conclusion：The clinical manifestations, plasma VLCFA levels and imaging features can be used as the bases for the clinical diagnosis of ALD.

关 键 词：肾上腺脑白质营养不良 临床特征 影像学特征 

分 类 号：R742[医药卫生—神经病学与精神病学]