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学科主题放射医学
SURF-1基因604G→C突变所致Leigh综合征的MRI表现
其他题名MRI findings in Leigh syndrome with SURF-1 gene 604G→C mutations
郭丽1; 谢晟1; 肖江喜1; 齐朝月1; 杨艳玲1; 蒋学祥1
关键词Leigh病 基因 突变 磁共振成像 Leigh Disease Gene Mutation Magnetic Resonance Imaging
刊名中华放射学杂志
2008
DOI10.3321/j.issn:1005-1201.2008.12.003
42期:12页:1246-1248
收录类别中国科技核心期刊 ; 中文核心期刊 ; CSCD
文章类型Journal Article
摘要目的 探讨SURF-1基因604G→C突变引起的Leigh综合征(Leigh syndrome,LS)的MRI表现.方法 对8例确诊为SURF-1基因604G→C突变的Ls患儿进行头颅MR检查,观察基底节、下丘脑、脑干及小脑灰质核团,大小脑白质异常及萎缩情况,并与典型LS患儿MRI改变进行比较.结果 3例Ls患儿MRI表现为脑干和下丘脑核受累,其中2例同时合并基底节异常;3例仅有大脑白质异常信号,无灰质核团受累;8例均存在脑萎缩,其中2例仅表现为单纯的脑萎缩,无灰质核团受累及白质异常.结论 SURF-1基因604G→C突变患儿的MRI表现具有多样化的特点. Objective To determine the MR phenotype of Leigh syndrome (IS) with SURF-1 gene mutation.Methods The cranial MR examination of eight patients with the diagnosis of Leigh syndrome associated with SURF-1 gene 604G→C mutations were reviewed retrospectively.Comparison was made with typical LS patients' MRI.Observation was made regarding lesions in basal ganglia,subthalamic nuclei,substantia nigra,and dentate nuclei,involvement of white matter,and brain atrophy.Results The MR findings of LS in the study included the following:3 cases exhibited involvement of brain stem and subthalamic nuclei,2 of these 3 cases also had basal ganglia abnormalities.3 cases showed abnormality in the white matter without any involvement of the deep nuclei.Cerebral atrophy was observed in all cases in the group,and was the only finding in two cases.Conclusion The imaging findings in LS with SURF-1 604G→C gene mutation were variable.
语种中文
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文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/42151
Collection北京大学第一临床医学院_放射治疗科
作者单位1.北京大学第一医院放射科,100034
2.北京大学第一医院儿科,100034
Recommended Citation
GB/T 7714
郭丽,谢晟,肖江喜,等. SURF-1基因604G→C突变所致Leigh综合征的MRI表现[J]. 中华放射学杂志,2008,42(12):1246-1248.
APA 郭丽,谢晟,肖江喜,齐朝月,杨艳玲,&蒋学祥.(2008).SURF-1基因604G→C突变所致Leigh综合征的MRI表现.中华放射学杂志,42(12),1246-1248.
MLA 郭丽,et al."SURF-1基因604G→C突变所致Leigh综合征的MRI表现".中华放射学杂志 42.12(2008):1246-1248.
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