Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory, and genetic information of 56 patients, including our patient and 55 other reported patients with homozygous or compound heterozygous mutations in the PNPLA2 gene. We found a novel homozygous mutation (c.194delC) in the PNPLA2 gene that resulted in frameshift. The patient suffered from normal-tension glaucoma and pulmonary cysts, symptoms that are relatively common in the elderly but were not previously reported for this disease. Our summary confirmed that Jordan’s anomaly, polymorphonuclear leukocytes with lipid accumulation, was the most consistent finding of this disease. Because this disease is potentially treatable, our results may help rapid and correct diagnosis.

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与PNPLA2基因相关的中性脂质贮积病：病例报告和文献综述

PNPLA2 基因突变导致中性脂质贮积病伴肌病 (NLSDM) 或甘油三酯沉积性心肌血管病。我们报告了一名患有 NLSDM 的 53 岁男性的详细案例研究。根据报道的方法分析PNPLA2基因。我们总结了 56 名患者的临床、实验室和遗传信息，包括我们的患者和 55 名其他报告的 PNPLA2 基因纯合或复合杂合突变患者。我们在 PNPLA2 基因中发现了一种导致移码的新型纯合突变 (c.194delC)。患者患有正常眼压青光眼和肺囊肿，这些症状在老年人中相对常见，但以前没有报道过这种疾病。我们的总结证实了乔丹的异常，多形核白细胞有脂质积累，是这种疾病最一致的发现。由于这种疾病可能是可以治疗的，我们的结果可能有助于快速和正确的诊断。