MRI findings in Fukuyama-type congenital muscular dystrophy of Chinese

VernacularTitle:中国人福山型先天性肌营养不良的MRI特征
Author: Shuangjuan CHENG ; Haipo YANG ; Jiangxi XIAO ; Feiyu LI ; Hui XIONG ; Shuo WANG
Publication Type:Journal Article
Keywords: Muscular dystrophies; Brain; Magnetic resonance imaging
From: Chinese Journal of Radiology 2015;49(4):310-312
CountryChina
Language:Chinese
Abstract: 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.