目的:报告2例肾上腺脑白质营养不良病例及其家系调查。方法:复习2例临床资料,结合文献进行分析。结果:肾上腺脑白质营养不良可有多种临床类型,起病于儿童的进行性精神迟滞、视力障碍及肾上腺皮质功能减退,应考虑到肾上腺脑白质营养不良的可能。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,尤其是血中含C2 2 以上极长链饱和脂肪酸的水平增高是确诊的重要依据。其治疗以骨髓移植疗效较肯定,基因治疗尚待进一步探讨。 Objective: To report 2 cases of adrenoleukodystrophy and their pedigree investigation. Methods: Review of 2 cases of clinical data, combined with the literature analysis. Results: Adrenoleukodystrophy may have a variety of clinical types, with progressive mental retardation, visual impairment and adrenal insufficiency in children, and the possibility of adrenoleukodystrophy should be considered. Conclusions: The diagnosis of adrenoleukodystrophy needs to be combined with clinical manifestations and imaging studies. Especially, the level of extremely long-chain saturated fatty acids containing C2 2 in blood is an important basis for diagnosis. The treatment of bone marrow transplantation more positive effect, gene therapy remains to be further explored.