肾上腺脑白质营养不良的临床表现

Clinical Manifestation of Adrenoleucodystrophy

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。

Aim:To report two adrenoleucodystrophy cases and their family survey. Methods: Adrenoleucodystrophy was analyzed by two adrenoleucodystrophy cases data and literature review. Results: There are a lot of clinical types in adrenoleucodystrophy. When a child manifests progressing mind hysteresis, visual disorder and hypoadrenocorticism we should think of the possibility of adrenoleucodystrophy. Conclusion: The diagnose of adrenoleucodystrophy must combine clinical manifestation with imageological examination. Especially, it is an important evidence to diagnose adrenoleucodystrophy that the amounts of plasma exceeding C_ 22 Very Long Chain Fatty Acids are higher than normal. Bone marrow transplant therapy is possibly effective. Gene therapy still needs further study.