IR@PKUHSC  > 北京大学第一临床医学院  > 放射治疗科
学科主题临床医学
Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G -> C mutation
Xie, Sheng1; Xiao, Jiang Xi1; Qi, Zhao Yue1; Yang, Yan Ling2; Jiang, Xue Xiang1
关键词Leigh syndrome MRI SURF1 gene mutation
刊名CLINICAL IMAGING
2009
DOI10.1016/j.clinimag.2008.08.001
33期:1页:1-6
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Radiology, Nuclear Medicine & Medical Imaging
研究领域[WOS]Radiology, Nuclear Medicine & Medical Imaging
关键词[WOS]C-OXIDASE DEFICIENCY ; COX DEFICIENCY
英文摘要

Objective: To identify the magnetic resonance (MR) features of a group of pediatric patients with Leigh syndrome (LS) caused by SURF1 gene 604G-->C mutation. Materials and Methods: Eight cases with definite diagnosis of SURF1 gene 604G-->C mutation in our hospital were reviewed. Most cases presented typical symptoms in their infancy or childhood, with psychomotor regression, hypotonia, or eye movement disturbances. They all underwent cranial MR examinations after the onset. Their brain images were reviewed by an experienced neuroradiologist to determine the abnormalities. Results: The data of our group showed heterogeneous neuroradiological findings: involvement of the brain stem and subthalamic nuclei was found in only three cases; basal ganglia abnormalities were detected in two cases, whereas demyelination was demonstrated in four cases; and brain atrophy existed invariably in the group. Conclusion: The MR presentation in LS patients with SURF1 gene 604G-->C mutation is variable. Maybe it is not appropriate to correlate a specific gene mutation with a homogenous radiological pattern. (C) 2009 Elsevier Inc. All rights reserved.

语种英语
WOS记录号WOS:000262772400001
引用统计
被引频次:8[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61020
专题北京大学第一临床医学院_放射治疗科
作者单位1.Peking Univ, Dept Radiol, Hosp 1, Beijing 100034, Peoples R China
2.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
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GB/T 7714
Xie, Sheng,Xiao, Jiang Xi,Qi, Zhao Yue,et al. Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G -> C mutation[J]. CLINICAL IMAGING,2009,33(1):1-6.
APA Xie, Sheng,Xiao, Jiang Xi,Qi, Zhao Yue,Yang, Yan Ling,&Jiang, Xue Xiang.(2009).Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G -> C mutation.CLINICAL IMAGING,33(1),1-6.
MLA Xie, Sheng,et al."Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G -> C mutation".CLINICAL IMAGING 33.1(2009):1-6.
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