Huckman M S, Wong P W, Sullivan T, Zeller P, Geremia G K
Am J Dis Child. 1986 Oct;140(10):1001-3. doi: 10.1001/archpedi.1986.02140240047024.
Adrenoleukodystrophy was diagnosed in two siblings and confirmed by analysis of very-long-chain fatty acids in skin fibroblasts. Both boys had computed tomograms (CTs) and magnetic resonance imaging (MRI) of the brain. In the most severely affected child, the CT and MRI examinations were both abnormal, but in the other child, the CT was mildly abnormal but the MRI was unequivocally abnormal. This suggests that MRI is more sensitive than CT in detecting the acute demyelinating changes of adrenoleukodystrophy and, in conjunction with very-long-chain fatty acid analysis, should be useful in screening unaffected or mildly affected siblings of patients with this disease.
在两名兄弟姐妹中诊断出肾上腺脑白质营养不良,并通过对皮肤成纤维细胞中极长链脂肪酸的分析得以证实。两个男孩都进行了脑部计算机断层扫描(CT)和磁共振成像(MRI)检查。在病情最严重的患儿中,CT和MRI检查均显示异常,但在另一名患儿中,CT仅有轻度异常,而MRI则明确显示异常。这表明,在检测肾上腺脑白质营养不良的急性脱髓鞘改变方面MRI比CT更敏感,并且结合极长链脂肪酸分析,对于筛查患有该疾病患者的未受影响或轻度受影响的兄弟姐妹应是有用的。