MRI findings in Fukuyama-type congenital muscular dystrophy of Chinese / 中华放射学杂志

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.