Muscle MRI in neutral lipid storage disease (NLSD).
Muscle MRI in neutral lipid storage disease (NLSD).
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DOI：
10.1007/s00415-017-8498-8
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发表时间：
2017-07
影响因子：
6
通讯作者：
Pennisi EM
中科院分区：
文献类型：
--
作者：
Garibaldi M;Tasca G;Diaz-Manera J;Ottaviani P;Laschena F;Pantoli D;Gerevini S;Fiorillo C;Maggi L;Tasca E;D'Amico A;Musumeci O;Toscano A;Bruno C;Massa R;Angelini C;Bertini E;Antonini G;Pennisi EM
中性脂质贮积病（NLSD）是一种罕见的脂质代谢遗传性疾病，导致脂质滴在不同组织中积聚。骨骼肌在两种不同形式的疾病中均可受累：伴有肌病的NLSD（NLSD - M）和伴有鱼鳞病的NLSD（NLSD - I）。我们展示了来自意大利NLSD网络的12名患者的肌肉影像学数据：10名患有NLSD - M的患者和2名患有NLSD - I的患者。在NLSD - M中，下肢的臀小肌、半膜肌、比目鱼肌和内侧腓肠肌以及上肢的冈下肌是最常受累的肌肉。股薄肌、缝匠肌、肩胛下肌、胸大肌、肱三头肌和胸锁乳突肌未受累。肌肉受累情况不均一，所有患者至少在一块肌肉中观察到特征性的“斑片状”改变。半数患者有一块或多块短时间反转恢复（STIR）序列呈阳性的肌肉。在两例NLSD - I病例中，T1加权快速自旋回波（T1 - TSE）序列未观察到肌肉受累，但其中一例腿部多块肌肉的STIR图像呈阳性。我们的数据证明肌肉影像学能够识别NLSD - M中的特征性改变，其特征是具有脂肪替代“斑片状”区域的特定肌肉受累模式。需要更大规模的队列研究来评估NLSD - I是否也存在独特的肌肉受累模式。
本文的网络版（doi:10.1007/s00415 - 017 - 8498 - 8）包含补充材料，授权用户可获取。
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles. Gracilis, sartorius, subscapularis, pectoralis, triceps brachii and sternocleidomastoid were spared. Muscle involvement was not homogenous and characteristic “patchy” replacement was observed in at least one muscle in all the patients. Half of the patients showed one or more STIR positive muscles. In both NLSD-I cases muscle involvement was not observed by T1-TSE sequences, but one of them showed positive STIR images in more than one muscle in the leg. Our data provides evidence that muscle imaging can identify characteristic alterations in NLSD-M, characterized by a specific pattern of muscle involvement with “patchy” areas of fatty replacement. Larger cohorts are needed to assess if a distinct pattern of muscle involvement exists also for NLSD-I. The online version of this article (doi:10.1007/s00415-017-8498-8) contains supplementary material, which is available to authorized users.
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DOI：
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发表时间：
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影响因子：
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