The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of clinical manifestations, including myopathy, cardiac dysfunction, and other organ complications. Early diagnosis is crucial due to the increased risk of cardiomyopathy. We describe the clinical, histopathological, muscle imaging, and genetic findings of nine neutral lipid storage myopathy patients. Proximal weakness and asymmetric involvement may suggest lipid storage myopathy. While skeletal muscle weakness was the main manifestation in our patients, one case presented only with hyperCKemia. Additionally, three patients had fertility issues, two suffered from diabetes mellitus, two had cardiomyopathy, and one had a history of hypothyroidism. Muscle histopathology revealed lipid depositions and rimmed vacuoles, prompting peripheral blood smears to detect Jordan Anomalies. All muscle biopsies and peripheral blood smear showed lipid droplets, rimmed vacuoles, and Jordan anomaly. Identifying PNPLA2 gene mutations is important for diagnosing neutral lipid storage myopathy; our cases showed some novel mutations. This study highlights the importance of early diagnosis and comprehensive evaluation in managing neutral lipid storage myopathy cases.

这种罕见疾病被称为中性脂质沉积病伴肌病，具有多种临床表现，包括肌病、心脏功能障碍和其他器官并发症。由于心肌病的风险增加，早期诊断至关重要。我们描述了九名中性脂质沉积性肌病患者的临床、组织病理学、肌肉成像和遗传学发现。近端无力和不对称受累可能提示脂质沉积性肌病。虽然骨骼肌无力是我们患者的主要表现，但1例仅表现为高CK血症。此外，三名患者有生育问题，两名患有糖尿病，两名患有心肌病，一名有甲状腺功能减退病史。肌肉组织病理学显示脂质沉积和边缘空泡，促使外周血涂片检测乔丹异常。所有肌肉活检和外周血涂片均显示脂滴、边缘空泡和乔丹异常。识别PNPLA2基因突变对于诊断中性脂质沉积性肌病很重要；我们的病例显示出一些新的突变。这项研究强调了早期诊断和综合评估在处理中性脂质储存性肌病病例中的重要性。