Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern
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DOI：
10.1002/mus.24634
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发表时间：
2015-11-01
期刊：
影响因子：
3.4
通讯作者：
Quijano-Roy, Susana
中科院分区：
文献类型：
--
作者：
Hankiewicz, Karolina;Carlier, Robert Y.;Quijano-Roy, Susana
简介：本研究的目的是描述由于SEPN 1突变（SEPN 1-RM）引起的肌病患者的肌肉受累谱。研究方法：9例患者使用全身磁共振成像（WBMRI），其中5例患者使用T1加权快速自旋回波（T1-TSE）序列和短tau反转恢复（STIR）序列。结果如下：通过T1-TSE序列对109块肌肉的信号和体积异常进行分析，结果显示在颈部、躯干、骨盆带和下肢的选定肌肉中存在可识别的萎缩和信号异常组合的同质模式。胸锁乳突肌严重萎缩，半膜肌萎缩。还观察到选择性椎旁、臀大肌和大腿肌肉受累。小腿不太经常受到影响。结论：改变的信号和肌肉萎缩的WBMRI评分可以由热图表示，并且与SEPN 1-RM中的均匀可识别模式相关，与其他遗传性肌肉疾病不同。肌肉神经52：728-735，2015
Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM). Methods: Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients. Results: Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. Conclusions: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases. Muscle Nerve52: 728-735, 2015