A Novel Mutation in PNPLA2 Leading to Neutral Lipid Storage Disease With Myopathy

Background Mutations in PNPLA2, a gene encoding adipose triglyceride lipase, lead to neutral lipid storage disease with myopathy. Objective To report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in PNPLA2. Design Case report. Setting University hospital. Patient A 65-year-old man with progressive muscle weakness and high serum creatine kinase levels. Intervention Direct sequencing of the PNPLA2 gene. Results Identification of a novel homozygous mutation in the patient's PNPLA2 gene confirmed the suspected diagnosis of neutral lipid storage disease with myopathy. Conclusion Screening of the PNPLA2 gene should be considered for patients presenting with high levels of creatine kinase, progressive muscle weakness, and systemic lipid accumulation. The presence of Jordans anomaly can be a strong diagnostic clue.