Objective: To investigate the clinical features, skeletal muscle imaging, muscle pathology, blood smear and so on of neutral lipid storage disease with myopathy (NLSDM) caused by PNPLA2 gene mutation.

Methods: The clinical data, skeletal muscle imaging, pathological data, and genetic test results of a patient with NLSDM treated in our hospital were collected in detail, and the previous literature was reviewed and compared.

Results: The main symptoms were muscle weakness and muscular atrophy. Pathological findings of muscle biopsy showed fat deposition in muscle fibers with border cavitation. Fatty droplets were seen in the cytoplasm of neutrophils in peripheral blood. Magnetic resonance imaging of the muscles of both lower extremities showed that muscle in the thigh vastus intermedius, lateral muscles, biceps, and the muscle abdominal area of the middle leg were filled or replaced by fat. Genetic test results suggested mutations in the PNPLA2 gene.

Conclusion: NLSDM is a rare clinical myopathy with abnormal lipid metabolism. Characteristic changes can be seen in skeletal muscle imaging and pathology. The detection of PNPLA2 gene mutation is an important basis for diagnosing NLSDM. Asymmetry and progressive limb weakness are the clinical features. Muscle MRI is mainly involved in the posterior group of the lower limbs. Jordans bodies in the peripheral blood smear and a large number of coarse-grained lipid deposits with rimmed vacuoles in muscle fibers are the characteristic pathological changes.

目的：探讨PNPLA2基因突变引起的中性脂质贮积病伴肌病（NLSDM）的临床特征，骨骼肌影像学，肌肉病理学，血涂片检查等。

方法：详细收集了我院收治的NLSDM患者的临床资料，骨骼肌影像学，病理资料和基因检测结果，并对以前的文献进行了回顾和比较。

结果：主要症状是肌肉无力和肌肉萎缩。肌肉活检的病理结果显示脂肪沉积在具有边界空化的肌肉纤维中。在外周血中性粒细胞的细胞质中可见脂肪滴。下肢肌肉的磁共振成像显示大腿肌肉中游，腹部肌肉，二头肌和中腿的肌肉腹部被脂肪填充或代替。遗传测试结果表明PNPLA2基因存在突变。

结论：NLSDM是一种罕见的临床肌病，其脂质代谢异常。特征变化可以在骨骼肌成像和病理中看到。PNPLA2基因突变的检测是诊断NLSDM的重要基础。临床特征是不对称和进行性四肢无力。肌肉MRI主要涉及下肢的后部。周围血液涂片中的乔丹体和大量粗粒脂质沉积物以及在肌纤维中有边缘空泡是典型的病理变化。