Supplementary Material for: Neutral Lipid Storage Disease Associated with the <b><i>PNPLA2</i></b> Gene: Case Report and Literature Review

Mutations in the <i>PNPLA2</i> 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 <i>PNPLA2</i> 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 <i>PNPLA2</i> gene. We found a novel homozygous mutation (c.194delC) in the <i>PNPLA2</i> 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.