Neutral lipid-storage disease with myopathy and Jordan anomaly.

A 58-year-old man presented with slowly progressive weakness involving proximal arm, distal leg, and finger extensor muscles. His history included embolic stroke, cardiomyopathy, diabetes, and triglyceridemia. Family history of myopathy was absent, but consanguinity was present. Muscle biopsy and carnitine/acylcarnitine testing were deferred. Heterozygous mutation in GNE p.V727L (VUS) and homozygous mutations in PNPLA2 p.R221P (pathogenic) were present. PNPLA2 mutations cause neutral lipid storage disease with myopathy (NLSDM1) and associated cardiomyopathy, metabolic disorders, and leucocyte vacuoles (figure). Jordan anomaly2 (leukocytic triglyceride containing vacuoles) on peripheral blood smear confirmed NLSDM. This is a unique abnormality documenting the pathologic basis for NLSDM.