Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder

Am J Med Genet. 1994 Jun 1;51(2):114-20. doi: 10.1002/ajmg.1320510207.

Abstract

A 40-year-old woman presented with profound muscle weakness resulting in failure to wean from a ventilator and persistent lactic acidosis after having recovered from a pneumonia complicated by adult respiratory distress syndrome, myocardial infarction, renal failure and shock. She had a 28 year history of chronic anemia and exercise intolerance. Anemia and thrombocytopenia persisted after admission. Nonobstructive hypertrophic cardiomyopathy was present. A stroke-like episode occurred. A mitochondrial myopathy with deficiencies in complexes IV and II was demonstrated, but no DNA defect has yet been found. This patient represents a distinct clinical presentation of a mitochondrial disorder characterized by late onset mitochondrial myopathy, chronic anemia, cardiomyopathy, and lactic acidosis.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / pathology*
  • Adult
  • Age of Onset
  • Anemia / pathology*
  • Bone Marrow / ultrastructure
  • Brain / ultrastructure
  • Cardiomyopathies / pathology*
  • Chronic Disease
  • Female
  • Humans
  • Mitochondria, Heart / pathology
  • Mitochondria, Muscle / pathology
  • Mitochondrial Myopathies / pathology*
  • Syndrome