X-连锁型肾上腺脑白质营养不良12例病例分析

X-linked adrenoleukodystrophy:an analysis of 12 cases

目的 从临床特点、神经影像学和生化检查等方面对X 连锁型肾上腺脑白质营养不良(X ALD)进行探讨 ,以提高对本病的认识。方法 对 12例儿童X ALD病人的临床表现和血浆极长链脂肪酸 (VLCFA)水平测定结果进行分析。结果 病人 5～ 11岁起病 ,平均发病年龄 7.5岁。表现为进行性听力、视力和智能减退、行为异常、癫痫发作和皮肤变黑。CT或MRI提示双侧大脑半球顶、枕、颞叶白质对称性脱髓鞘改变。血浆C2 6、C2 6/C2 2 水平明显升高。结论 X ALD是一种X 连锁隐性遗传性疾病 ,其临床特征为儿童期起病的进行性听力、视力障碍和智能减退。

Objective To study the clinical characteristics by using CT, MRI and biochemistry test on the X linked adrenoleukodystrophy (X ALD) Methods The clinical,neuro imaging and determinations of plasma very long chain fatty acids (VLCFAs) of 12 cases with X ALD were analysed Results The main clinical features consisted of the childhood onset,progressive auditory, visual and/or intelligent impairment, behavioural changes,epileptic seizures and melanodermia. CT or MRI scans demonstrated that the demyelinating lesions were located on the bilateral white matter in occipital,posterior parietal and temporal lobes.The levels of hexacosanoic acid (C 26:0 ) and the ratio of C 26:0 to docosanoic acid (C 22:0 ) were increased. Conclusions ALD is an inherited disease as an X linked trait.The childhood X ALD is characteristiced by progressive auditory, visual and intelligent deterioration.The abnormalities of CT or MRI scan and the levels of the plasma VLCFAs are crucial to the diagnosis of X ALD.