Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A
Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A
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DOI：
10.1002/mus.24507
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发表时间：
2015-06-01
期刊：
影响因子：
3.4
通讯作者：
Yuan, Yun
中科院分区：
文献类型：
--
作者：
Xu, Chunxiao;Zhao, Yawen;Yuan, Yun
我们描述了2例携带突变c.187+1G>A的中性脂质储存病伴肌病（NLSDM）兄弟姐妹的临床和肌肉MRI变化。方法外周血涂片、基因检测、肌肉活检。进行大腿MRI观察脂肪置换、肌肉水肿和轴向切片的肌肉体积。结果两兄妹均有相似的脂肪浸润和水肿。臀大肌、大内收肌、半腱肌和半膜肌的t1加权图像显示明显的弥漫性脂肪浸润。股二头肌和股四头肌受累不对称。除股直肌外，股四头肌有广泛的脂肪浸润。股薄肌和缝匠肌相对幸免于难。大腿肌体积减小，股薄肌和缝匠肌代偿性肥大。结论与以往报道的NLSDM相比，这种肌病的MRI变化更严重。不对称性和相对选择性的脂肪浸润特征。中国生物医学工程学报（英文版），2015
IntroductionWe describe the clinical and muscle MRI changes in 2 siblings with neutral lipid storage disease with myopathy (NLSDM) carrying the mutation c.187+1G>A.MethodsPeripheral blood smears, genetic tests, and muscle biopsies were performed. Thigh MRI was performed to observe fatty replacement, muscle edema, and muscle bulk from axial sections.ResultsBoth siblings had similar fatty infiltration and edema. T1-weighted images of the gluteus maximus, adductor magnus, semitendinosus, and semimembranosus revealed marked and diffuse fatty infiltration. There was asymmetric involvement in biceps femoris and quadriceps. There was extensive fatty infiltration in the quadriceps, except for the rectus femoris. Gracilis and sartorius were relatively spared. Thigh muscle volume was decreased, while the gracilis and sartorius appeared to show compensatory hypertrophy.ConclusionsCompared with previous reports in NLSDM, MRI changes in this myopathy tended to be more severe. Asymmetry and relatively selective fatty infiltration were characteristics. Muscle Nerve51: 922-927, 2015