Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason

Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12731. doi: 10.1111/nan.12731. Epub 2021 May 21.

Abstract

Three consecutive skeletal muscle biopsies during a several months time-frame, showing different degrees of neutral lipid storage. This is highlighted by Oil-red-O stains (D, E, F) and electron microscopy (G, H, I). Note the impact on mitochondrial morphology with so called 'parking lots (K, L). Zooming 'in and out' into the ultrastructure, using the nanotomy platform provides interesting detailled information (http://nanotomy.org). ​.

Keywords: electron microscopy; lipid storage myopathy; mitochondrial myopathy; multiple acyl coenzyme A dehydrogenase deficiency.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Immunoglobulins
  • Lipid Metabolism, Inborn Errors* / pathology
  • Muscle, Skeletal / pathology
  • Muscular Diseases* / pathology
  • Muscular Diseases* / therapy
  • Muscular Dystrophies*
  • Plasmapheresis

Substances

  • Immunoglobulins

Supplementary concepts

  • Myopathy with Abnormal Lipid Metabolism