Lipid storage myopathies with unusual clinical manifestations

Neurol India. 2008 Jul-Sep;56(3):391-3. doi: 10.4103/0028-3886.43460.

Abstract

We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on genetic analysis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Lipid Metabolism*
  • Middle Aged
  • Muscle Fibers, Skeletal / pathology
  • Muscular Diseases / diagnosis
  • Muscular Diseases / pathology*
  • Muscular Diseases / therapy
  • Young Adult