Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
AJNR Am J Neuroradiol. 2009 Nov;30(10):1893-7. doi: 10.3174/ajnr.A1739. Epub 2009 Oct 1.
Metachromatic leukodystrophy (MLD) is a devastating demyelinating disease for which novel therapies are being tested. We hypothesized that MR imaging of brain lesion involvement in MLD could be quantified along a scale.
Thirty-four brain MR images in 28 patients with proved biochemical and genetic defects for MLD were reviewed: 10 patients with late infantile, 16 patients with juvenile, and 2 patients with adult MLD. All MR images were reviewed by experienced neuroradiologists and neurologists (2 readers in Germany, 2 readers in the United States) for global disease burden, as seen on the T2 and fluid-attenuated inversion recovery images. A visual scoring method was based on a point system (range, 0-34) derived from the location of white matter involvement and the presence of global atrophy, analogous to the scoring system developed for adrenoleukodystrophy. The readers were blinded to the neurologic findings.
Thirty-three of 34 MR images showed confluent T2 hyperintensities of white matter. The inter-rater reliability coefficient was 0.988. Scores between readers were within 2 points of each other. Serial MR imaging studies in 6 patients showed significant progressive disease in 3 patients (initial score average, 4; mean follow-up, 24.3) and no change or 1 point progression in 3 patients (initial score average, 12; mean follow-up, 12.66). Projection fibers and the cerebellum tended to be involved only in advanced stages of disease.
The MLD MR severity scoring method can be used to provide a measure of brain MR imaging involvement in MLD patients.
异染性脑白质营养不良（MLD）是一种毁灭性的脱髓鞘疾病，目前正在测试新的治疗方法。我们假设可以对 MLD 脑病变受累的磁共振成像（MRI）进行定量评估。
回顾了 28 例经证实存在生化和遗传缺陷的 MLD 患者的 34 例脑 MRI 图像：10 例晚婴型、16 例少年型和 2 例成年型 MLD。所有 MRI 图像均由德国的 2 位读者和美国的 2 位读者进行阅片，以评估 T2 和液体衰减反转恢复（FLAIR）图像上的总体疾病负担。基于病变累及白质的部位和存在的全脑萎缩，采用视觉评分法进行评分（范围为 0-34 分），类似于为肾上腺脑白质营养不良（ALD）开发的评分系统。读者对神经学发现不知情。
34 例 MRI 图像中有 33 例显示出脑白质弥漫性 T2 高信号。观察者间的可靠性系数为 0.988。读者间的评分相差 2 分以内。6 例患者的连续 MRI 研究显示，3 例患者的疾病明显进展（初始评分平均为 4，平均随访时间为 24.3），3 例患者无变化或仅进展 1 分（初始评分平均为 12，平均随访时间为 12.66）。投射纤维和小脑仅在疾病的晚期受累。
MLD 脑 MRI 严重程度评分方法可用于评估 MLD 患者脑 MRI 受累程度。
