An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain

J Neurol Sci. 1988 Aug;86(1):31-40. doi: 10.1016/0022-510x(88)90005-6.

Abstract

A 29-year-old single woman had recurrent stroke-like episodes. She developed loss of consciousness, myoclonic seizures, and lactic acidosis. She died at the age of 30. A muscle biopsy study revealed mitochondrial myopathy, and the postmortem biochemical analysis demonstrated decreased cytochrome c oxidase activity in the skeletal muscles by 20% of normal control. The brain had multiple ischemic lesions in the cerebral cortex without major vascular occlusions. We present this case as an autopsy case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with a partial deficiency of cytochrome c oxidase. The analytical electron microscopic study of the calcified small vessels in the globus pallidus revealed increased calcium, phosphorus and iron. No accumulation of chromium, nickel or zinc was noted in this case, which was different from the previously reported cases of basal ganglia calcification.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / diagnostic imaging
  • Brain / metabolism
  • Brain / ultrastructure*
  • Demyelinating Diseases / metabolism
  • Demyelinating Diseases / pathology*
  • Electron Transport Complex IV / metabolism*
  • Female
  • Humans
  • Microscopy, Electron
  • Muscles / metabolism*
  • Muscles / pathology
  • Radiography
  • Vacuoles / ultrastructure

Substances

  • Electron Transport Complex IV