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一名3岁男孩患 Leigh 综合征,有不寻常的脑部磁共振成像和病理表现。

Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings.

作者信息

Topçu M, Saatci I, Apak R A, Söylemezoglu F, Akçören Z

机构信息

Hacettepe University, Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.

出版信息

AJNR Am J Neuroradiol. 2000 Jan;21(1):224-7.

Abstract

We report unusual MR serial imaging and electron microscopy findings in a 3-year-old boy who had Leigh syndrome with cytochrome-c oxidase (cox) deficiency. The MR imaging findings included periventricular white matter involvement, posteroanterior progression, and extension through the corpus callosum and internal capsule; however, no basal ganglia or brain stem abnormality was found, which was suggestive of leukodystrophy. The most noteworthy findings were the cystic foci with contrast enhancement in the affected white matter.

摘要

我们报告了一名患有细胞色素 c 氧化酶(cox)缺乏的 Leigh 综合征的 3 岁男孩的异常磁共振成像(MR)序列成像和电子显微镜检查结果。MR 成像结果包括脑室周围白质受累、前后进展以及通过胼胝体和内囊延伸;然而,未发现基底神经节或脑干异常,这提示了脑白质营养不良。最值得注意的发现是受累白质中出现的有对比增强的囊性病灶。

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