Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival
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DOI：
10.1212/01.wnl.0000106943.40848.03
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发表时间：
2004-02-10
期刊：
影响因子：
9.9
通讯作者：
Poll-The, BT
中科院分区：
文献类型：
--
作者：
Barth, PG;Majoie, CBLM;Poll-The, BT
目的：明确Zellweger谱系（ZeS）中存活时间延长的过氧化物酶体生物发生障碍（PBD）的神经影像学特征。方法：对25例存活一年的患者的MR图像进行分析。将神经影像与神经学特征、PBD-ZeS特异性化合物发育评分和两种常见的PEX 1突变进行比较。结果：三组定义的基础上正常的发现，发育异常，回归变化。在临床病程稳定或进行性恶化的患者中发现了由白质脑病组成的退行性变化。少数患者同时出现新皮质萎缩。临床病程稳定的白质脑病是最大的亚组（48%）。作者发现小脑中央白色物质是无症状和有症状白质脑病早期变化的病灶。临床稳定性白质脑病的白色受累与发育障碍程度之间的关系尚不能确定。常见的纯合子PEX 1 G843 D突变出现在三个主要结局组中。这一结果表明最常见的PEX 1突变的可变表型表达。结论：ZES患者存活第一年的MR结果与Zellweger综合征不同，主要是退行性变化而不是发育性变化。分布模式提示症状性和无症状性白质脑病的病理机制相同。
Objective: To define neuroimaging characteristics of peroxisome biogenesis disorders (PBD) with prolonged survival belonging to the Zellweger spectrum (ZeS). Methods: The authors studied MR images of 25 patients surviving the first year. Neuroimages were compared to neurologic profiles, PBD-ZeS specific compound developmental scores, and two common PEX1 mutations. Results: Three groups are defined based on normal findings, developmental anomalies, and regressive changes. Regressive changes consisting of leukoencephalopathy were identified in patients who had either stable clinical course or progressive deterioration. Concomitant neocortical atrophy was encountered in a minority. Leukoencephalopathy with stable clinical course represents the largest subgroup (48%). The authors found the central cerebellar white matter a focus for early changes in both asymptomatic and symptomatic leukoencephalopathy. A relationship between white matter involvement in clinically stable leukoencephalopathy and degree of developmental failure could not be established. The common homozygous PEX1 G843D mutation is represented in the three main outcome groups. This result points to variable phenotypic expression of the most common PEX1 mutation. Conclusions: MR findings in ZeS patients surviving the first year differ from Zellweger syndrome in predominance of regressive over developmental changes. Distribution pattern suggests identical pathomechanisms for symptomatic and asymptomatic leukoencephalopathy.