肌营养不良症伴脑白质病变

Muscular dystrophy with white matter lesion

目的:就肌营养不良症伴中枢神经系统病变,从影像学特点及发病机制两方面进行相关探讨。方法:报道1例肌营养不良症伴中枢神经系统病变,并进行相关文献复习。结果:肌营养不良症伴中枢神经系统病变的MRI表现主要有脑萎缩、无脑回或脑回肥厚、白质病变及后颅窝病变等,其发病机制为LAMA2基因突变致原发性层粘连蛋白α2链缺乏,导致肌肉及中枢神经系统病变,部分肌营养不良症类型为继发性层粘连蛋白α2链缺乏(如肌-眼-脑病)。结论:肌营养不良症可伴有中枢神经系统病变,层粘连蛋白α2链缺乏为其发病机制。

Objective： To explore the image features and pathogenesis of muscular dystrophy associated with central nervous lesion.Methods： One case of muscular dystrophy with central nervous lesion was reported and relevant literatures were reviewed.Results： The MRI features of muscular dystrophy were brain atrophy,agyria,pachygyria,white matter abnormalities and posterior fossa malformation.The muscular dystrophy with the central nervous lesion was due to mutation in LAMA2 gene,resulting in a primary defect of lamininα2 chain of merosin.A secondary deficiency of lamininα2 chain was found in some types of MD,such as muscle-eye-brain disease.Conclusion： Muscular dystrophy can be associated with central nervous lesions and the mechanism is the deficiency of lamininα2 chain of merosin.