Title中国人福山型先天性肌营养不良的MRI特征
Other TitlesMRI findings in Fukuyama-type congenital muscular dystrophy of Chinese
Authors程双娟
杨海坡
肖江喜
李飞宇
熊晖
王硕
Affiliation100034,北京大学第一医院医学影像科
100034,北京大学第一医院儿科
Keywords肌营养不良

磁共振成像
Muscular dystrophies
Brain
Magnetic resonance imaging
Issue Date2015
Publisher中华放射学杂志
Citation中华放射学杂志.2015,49,(4),310-312.
Abstract目的 探讨中国人福山型先天性肌营养不良(FCMD)的MRI特征.方法 回顾性分析我院基因检测确诊为FCMD的3例患儿的临床及影像资料.3例患儿中女2例、男1例,行MR检查时的年龄分别是0.5、2.3、5.0岁.临床主要表现为为肌力、肌张力低下和严重的发育迟滞.由2名资深的神经放射医师对MRI影像进行评价,包括大脑皮层发育异常、小脑发育异常、大脑白质异常及脑干改变等.结果 3例患儿均有额叶多小脑回改变,小脑皮层下多发小囊状灶呈长T1、长T2信号,3例大脑白质信号异常,其中2例伴小脑结构的改变及脑干细小、1例伴颞极皮层下白质囊变及侧脑室的发育异常.结论 FCMD具有典型MRI表现,结合临床症状及生化检测可以做出初步诊断.
Objective To investigate the MRI features of Fukuyama-type congenital muscular dystrophy(FCMD) in Chinese.Methods The MRI and clinical data of 3 patients with FCMD which had been diagnosed by gene analysis were retrospectively analyzed.Two females and one male were included in this study,and they underwent MR examination at 0.5,2.3,5.0 years old respectively.The main clinical manifestations were muscular hypotonia and severe developmental delay.Abnormalities on MR images were analyzed and recorded by two experienced radiologists.Results Unlayerdpoly microgyria involved in frontal lobes,numerous intraparenchymal cysts at the peripheral hemispheres and prolonged T1 and T2 signal in the white matter were found in all the 3 cases.Disorganized cerebellar folia,lissencephaly of cerebral cortices,flattened pons were detected in 2 cases.Cystic region of white matter incerebral cortices and enlarged fourth ventricle could be seen in one case.Conclusion There are typical MR imaging featuresof FCMD,and preliminary diagnosis can be made by the combination with clinical symptoms and biochemical analysis.
URIhttp://hdl.handle.net/20.500.11897/415376
ISSN1005-1201
DOI10.3760/cma.j.issn.1005-1201.2015.04.017
Indexed中文核心期刊要目总览(PKU)
中国科技核心期刊(ISTIC)
中国科学引文数据库(CSCD)
Appears in Collections:第一医院

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