Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients
Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients
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DOI：
10.1007/s002340050689
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发表时间：
1998-12-01
期刊：
影响因子：
2.8
通讯作者：
Savoiardo, M
中科院分区：
文献类型：
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作者：
Farina, L;Morandi, L;Savoiardo, M
我们展示了 5 名先天性肌营养不良症 (CMD) 和 merosin（层粘连蛋白 α2）缺乏症患者的 MRI 结果，其中 1 名患者完全缺乏，4 名患者部分缺乏。一名部分 merosin 缺乏的患者的 MRI 检查结果正常。其他四名患者存在幕上白质异常。在三张照片中，T2 加权图像显示白质中皮质下、深叶和脑室周围的高信号，而在另一张照片中，只有小额角区周围的信号增加。在 T1 加权图像上，信号略低。没有皮质异常。这些变化均不伴有中枢神经系统受累的症状或体征。 CMD 患者的白质异常应提示对 merosin 进行检查。
We present the MRI findings in five patients with congenital muscular dystrophy (CMD) and merosin (laminin alpha 2) deficiency, which was total in one and partial in four. In one patient with partial merosin deficiency, MRI was normal. The other four patients had supratentorial white matter abnormalities. In three, T2-weighted images revealed subcortical, deep lobar and periventricular high signal in white matter, while in the other there were only small peritrigonal areas of increased signal. On T1-weighted images, there was slightly low signal. Cortical abnormalities were absent. None of these changes were accompanied by symptoms or signs of central nervous system involvement. White matter abnormalities in a patient with CMD should prompt investigation of merosin.