Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

► Neutral lipid storage disease with myopathy (NLSDM) is associated with mutations in the PNPLA2 gene. ► Muscle symptoms usually start at the beginning of the third decade of life. ► In a 14-year-old boy with asymptomatic hyperCKemia two heterozygous mutations in the PNPLA2 gene were identified. ► A lipid storage myopathy should be considered in children with hyperCKemia.