Abstract
BackgroundPNPLA2 gene mutations cause neutral lipid storage disease with myopathy (NLSD-M) or cardiomyopathies. The clinical phenotype, blood test results, imaging examination and gene analysis can be used to improve the understanding of NLSD-M, reduce the misdiagnosis rate and prevent physical disability and even premature death.Case presentationWe report a Chinese child with NLSD-M presenting with marked asymmetric skeletal myopathy and hypertrophic cardiomyopathy. Blood biochemical tests revealed increased creatine kinase levels, and echocardiography revealed a diffuse and thick left ventricular wall. Gene analysis revealed a homozygous mutation c.155C > G (p.Thr52Arg) in PNPLA2.ConclusionsAn understanding of the characteristic features is essential for the early diagnosis of NLSD-M. Our data expand the allelic spectrum of PNPLA2 mutations, providing further evidence for genetic and clinical NLSD-M heterogeneity in younger individuals.
Highlights
PNPLA2 gene mutations cause neutral lipid storage disease with myopathy (NLSD-M) or cardiomyopathies
Neutral lipid storage disease with myopathy (NLSD-M) is an ultra-rare mostly autosomal recessive disorder caused by mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL)
NLSD-M presents with skeletal muscle myopathy and severe dilated cardiomyopathy in approximately 40% of cases
Summary
PNPLA2 gene mutations cause neutral lipid storage disease with myopathy (NLSD-M) or cardiomyopathies. Background Neutral lipid storage disease with myopathy (NLSD-M) is an ultra-rare mostly autosomal recessive disorder caused by mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL). NLSD-M presents with skeletal muscle myopathy and severe dilated cardiomyopathy in approximately 40% of cases.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
