脂质沉积性肌病(lipidstoragemyopathy,LSM)是由于影响脂质代谢的线粒体酶或肉碱缺乏,干扰了肌纤维内脂质代谢,导致肌细胞内脂肪堆积而引起的肌病,属常染色体隐性遗传肌病。肌肉中脂肪滴聚集是本病最显著的病理改变特点,不伴其他肌肉病理学改变。本研究报道1例LSM,从临床和病理 Lipid deposition myopathy (lipidstoragemyopathy, lipid metabolism due to mitochondrial enzymes or carnitine deficiency, interfere with lipid metabolism in the muscle fiber, resulting in intramuscular fat accumulation caused by myopathy, autosomal recessive Genetic myopathy. The accumulation of fat droplets in muscle is the most prominent pathological change of the disease, not with other muscle pathology changes. This study reported 1 case of LSM, both clinically and pathologically