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

Biochem Biophys Res Commun. 2013 Jan 4;430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9.

Abstract

We report a 14-year-old-boy with markedly elevated serum creatine kinase (CK) levels, in whom massive triglyceride storage was found in peripheral blood leukocytes and in muscle biopsy. Sequencing PNPLA2, the gene encoding the adipose triglyceride lipase (ATGL) and responsible for the neutral lipid storage disease with myopathy (NLSDM), we identified two heterozygous mutations, including a previously reported nonsense and a novel missense mutation in the patatin domain of the gene. Lipid storage myopathy can be clinically silent in childhood and presenting only with hyperCKemia.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Ichthyosiform Erythroderma, Congenital / pathology*
  • Lipase / genetics*
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipid Metabolism, Inborn Errors / pathology*
  • Magnetic Resonance Imaging
  • Male
  • Molecular Sequence Data
  • Muscle, Skeletal / pathology*
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology*
  • Mutation

Substances

  • Lipase
  • PNPLA2 protein, human

Supplementary concepts

  • Chanarin-Dorfman Syndrome