CAJ | 학술논문

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.
목적 탐토중국인복산형선천성기영양불량(FCMD)적MRI특정.방법 회고성분석아원기인검측학진위FCMD적3례환인적림상급영상자료.3례환인중녀2례、남1례,행MR검사시적년령분별시0.5、2.3、5.0세.림상주요표현위위기력、기장력저하화엄중적발육지체.유2명자심적신경방사의사대MRI영상진행평개,포괄대뇌피층발육이상、소뇌발육이상、대뇌백질이상급뇌간개변등.결과 3례환인균유액협다소뇌회개변,소뇌피층하다발소낭상조정장T1、장T2신호,3례대뇌백질신호이상,기중2례반소뇌결구적개변급뇌간세소、1례반섭겁피층하백질낭변급측뇌실적발육이상.결론 FCMD구유전형MRI표현,결합림상증상급생화검측가이주출초보진단.
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.