Service de Radiologie, Hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré, Garches, France.
Neuromuscul Disord. 2011 Nov;21(11):791-9. doi: 10.1016/j.nmd.2011.06.748. Epub 2011 Jul 30.
To describe muscle involvement on whole-body MRI scans in adult patients at different stages of late-onset Pompe disease. Twenty patients aged 37 to 75 were examined. Five were bedridden and required ventilatory support. Axial and coronal T1 turbo-spin-echo sequences were performed on 1.5T or 3T systems. MRI was scored for 47 muscles using Mercuri's classification. Whole-body scans were obtained with a mean in-room time of 29 min. Muscle changes consisted of internal bright signals of fatty replacement without severe retraction of the muscles' corpus. Findings were consistent with previous descriptions of spine extensors and pelvic girdle, but also provided new information on recurrent muscle changes particularly in the tongue and subscapularis muscle. Moreover thigh involvement was more heterogeneous than previously described, in terms of distribution across muscles as well as with respect to the overall clinical presentation. Whole-body MRI provides a very evocative description of muscle involvement in Pompe disease in adults.
描述晚期庞贝病不同阶段成年患者的全身 MRI 扫描中的肌肉受累情况。共检查了 20 名年龄在 37 至 75 岁的患者。其中 5 名患者卧床不起，需要通气支持。在 1.5T 或 3T 系统上进行了轴向和冠状 T1 涡轮自旋回波序列。使用 Mercuri 分类法对 47 块肌肉进行了 MRI 评分。全身扫描的平均室内时间为 29 分钟。肌肉变化包括脂肪替代的内部亮信号，而肌肉体没有严重的收缩。这些发现与先前对脊柱伸肌和骨盆带的描述一致，但也提供了关于舌和肩胛下肌等反复性肌肉变化的新信息。此外，大腿受累的分布以及整体临床表现比以前描述的更为多样化。全身 MRI 非常生动地描述了成年人庞贝病中的肌肉受累情况。
