Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
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DOI：
10.4103/0366-6999.183423
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发表时间：
2016-06-20
影响因子：
6.1
通讯作者：
Wang N
中科院分区：
文献类型：
--
作者：
Liu XY;Jin M;Wang ZQ;Wang DN;He JJ;Lin MT;Fu HX;Wang N
脂质沉积性肌病（LSM）是一个遗传异质性组与可变的临床表型。晚发型多重酰基辅酶A脱氢缺乏症（MADD）是我国LSM的一种常见病。它的诊断和临床管理仍然具有挑战性，特别是没有强大的肌肉活检结果和基因检测。肌肉磁共振成像（muscle magnetic resonance imaging，MRI）以其无创、方便等优点成为神经肌肉疾病的辅助诊断工具。然而，对迟发性MADD的肌肉受累的MRI表现及其诊断价值尚未进行系统分析。我们对28例晚发MADD患者的下肢肌肉MRI表现和脂肪浸润程度进行了评估，并结合详细的临床特征和基因谱。对股肌脂肪浸润程度进行评分，对臀肌脂肪浸润程度是否明显进行评分。相关性肌萎缩定义为明显的肌肉体积减少。股前肌群、股内侧肌群和股后肌群的平均得分有显著差异。股后肌群脂肪浸润评分均值显著高于股前肌群和股内侧肌群（P < 0.001）。股内侧肌群的平均得分显著高于股前肌群（P < 0.01）。约一半的患者表现为臀肌脂肪浸润和萎缩。28例患者中12例出现股内侧和/或股后肌群萎缩，尤其是股后肌群萎缩。所有患者均未出现肌肉水肿。迟发性MADD患者在股前、股后和股内侧肌群上表现出典型的脂肪浸润和萎缩的肌肉影像学模式，主要累及股后肌群和臀肌，股前室受累较少。我们的研究结果还表明，下肢肌肉MRI是一个有用的工具，指导晚发MADD的临床评估。
Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging (MRI) is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed. We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that of gluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction. The mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group (P < 0.001). Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group (P < 0.01). About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients. Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that muscle MRI of lower limbs is a helpful tool in guiding clinical evaluation on late-onset MADD.