Rosskamp R, Fichsel H, Röder B, Conzelmann E, Hinrichs U
Klin Padiatr. 1985 Jan-Feb;197(1):61-4. doi: 10.1055/s-2008-1033928.
The diagnosis of adrenoleukodystrophy (ALD) in two brothers was confirmed by the analysis of long-chain fatty acids in cultured skin fibroblasts. The 23 year old brother was treated for Addison's disease at the age of 7 years. His first symptoms of ALD developed at the age of 22. These were lack of concentration and compulsive disorder. The younger brother was noted to show behavioural changes and a decreased performance at school at age 9. The disease then progressed rapidly. Variability and diagnostic procedures are discussed in this report.
通过对培养的皮肤成纤维细胞中的长链脂肪酸进行分析，确诊了两兄弟患有肾上腺脑白质营养不良（ALD）。23岁的哥哥在7岁时因艾迪生病接受治疗。他的ALD首发症状出现在22岁，表现为注意力不集中和强迫症。弟弟在9岁时被发现有行为改变和学习成绩下降，随后病情迅速发展。本报告讨论了该病的变异性及诊断程序。
