LAUSR

To the Editor: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder caused by mutations in the PNPLA2 gene. The gene encodes adipose triglyceride lipase (ATGL), an enzyme that catalyzes hydrolysis of triglycerides in mammalian adipose tissue and plays key roles in the function of lipid droplets (LDs). The results of many biochemical studies have revealed intracellular localiza-tion of ATGL with LDs, but catalytic activity is completely lost in the context of PNPLA2 mutation. [1] Although NLSDM patients primarily exhibit progressive myopathy, hypertrophic cardiomyopathy (HCM), hepatomegaly, diabetes, and short stature, [2] later onset of the muscle phenotype has been observed in some cases. [2] The most obvious explanation for this muscle weakness is that defects in ATGL activity impair lipolytic breakdown of muscular triacylglycerol (TAG) stores, which alters energy production. Examination of peripheral blood smears always reveals vacuolization of leukocytes with LDs (Jordans ’ anomaly), which should prompt the search for mutations in the gene encoding ATGL. Herein, we present a clinical report of a Chinese man with NLSDM presenting with HCM and skeletal myopathy. The study was approved by the Research Ethics Commission of China-Japan Friendship Hospital (No. 2015-ST-4). Written informed consent for publication of clinical details and/or clinical images was obtained from