Loes D J, Fatemi A, Melhem E R, Gupte N, Bezman L, Moser H W, Raymond G V
Suburban Radiology Consultant Ltd., Minneapolis, MN, USA.
Neurology. 2003 Aug 12;61(3):369-74. doi: 10.1212/01.wnl.0000079050.91337.83.
X-linked adrenoleukodystrophy (X-ALD) has variants with widely different outcomes, hampering clinical counseling and evaluation of therapies.
To evaluate the degree to which MRI patterns can predict lesion progression.
Two hundred six boys and men with cerebral X-ALD (median age 12.2 years, mean age 18.5 years, age range 1.7 to 73.8 years) were studied. In 140 individuals, follow-up MRI were available. Data after bone marrow transplantation (BMT) were excluded. The patterns of MRI abnormalities were subdivided into five groups based on the anatomic location of the initial T2 signal hyperintensity (pattern 1: parieto-occipital white matter, pattern 2: frontal white matter, pattern 3: corticospinal tract, pattern 4: cerebellar white matter, pattern 5: concomitant parieto-occipital and frontal white matter). The X-ALD MRI Severity Scale, a 34-point scale previously described, was used in the analysis.
Pattern 1 patients had rapid progression if contrast enhancement was present and if the MRI abnormality manifested at an early age. The latter was also true for pattern 2 patients. Based on these variables, predictive formulas were constructed for these two patterns using multiple regressions. MRI progression was much slower in pattern 3 and 4 patients, whereas in the few pattern 5 patients, it was more rapid than in any other of the patterns. Patterns 1 and 5 occurred mainly in childhood, patterns 2 and 4 in adolescence, and pattern 3 in adults.
MRI progression in X-ALD depends on patient age, initial MRI Severity Scale score, and anatomic location of the lesion. When used in combination, these data aid the prediction of disease course and the selection of patients for BMT.
X连锁肾上腺脑白质营养不良（X-ALD）存在多种预后差异很大的变异型，这给临床咨询和治疗评估带来了困难。
评估MRI表现模式预测病变进展的程度。
对206名患有脑型X-ALD的男孩和男性进行了研究（中位年龄12.2岁，平均年龄18.5岁，年龄范围1.7至73.8岁）。其中140人有后续的MRI检查结果。排除了骨髓移植（BMT）后的相关数据。根据初始T2信号高信号的解剖位置，将MRI异常模式分为五组（模式1：顶枕叶白质，模式2：额叶白质，模式3：皮质脊髓束，模式4：小脑白质，模式5：顶枕叶和额叶白质同时受累）。分析中使用了先前描述的34分的X-ALD MRI严重程度量表。
如果存在对比增强且MRI异常在早期出现，模式1的患者病情进展迅速。模式2的患者也是如此。基于这些变量，使用多元回归为这两种模式构建了预测公式。模式3和4的患者MRI进展要慢得多，而在少数模式5的患者中，进展比其他任何模式都要快。模式1和5主要发生在儿童期，模式2和4发生在青春期，模式3发生在成年人中。
X-ALD的MRI进展取决于患者年龄、初始MRI严重程度量表评分以及病变的解剖位置。综合使用这些数据有助于预测疾病进程并为BMT选择合适的患者。
