MELAS without ragged red fibers or lactic acidosis diagnosed by mitochondrial DNA testing

Jpn J Psychiatry Neurol. 1993 Sep;47(3):637-41. doi: 10.1111/j.1440-1819.1993.tb01810.x.

Abstract

A case of mitochondrial encephalomyopathy with lactic acidosis, a stroke-like episode (MELAS) without ragged red fiber, diagnosed by mitochondrial DNA testing, is reported. A 37-year-old woman experienced a sudden and recurrent headache with vomiting and stroke-like episodes. Brain CT and MRI showed multiple infarction in the temporal lobes, not corresponding to artery distribution. However, the plasma levels of lactate and pyruvate were normal, and showed no increased after aerobic exercise. Biopsied muscle showed no evidence of ragged red fibers and deficient activity of mitochondrial enzymes in the respiratory chain. The final diagnosis was made by mitochondrial DNA testing. A southern blot analysis after Apa I digestion revealed the A-to-G mutation in the tRNA(Leu(UUR)), which is specific to MELAS.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / diagnosis*
  • Acidosis, Lactic / genetics
  • Acidosis, Lactic / pathology
  • Adult
  • Biopsy
  • Blotting, Southern
  • Cerebral Cortex / pathology
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / ultrastructure
  • Dominance, Cerebral / physiology
  • Female
  • Humans
  • MELAS Syndrome / diagnosis*
  • MELAS Syndrome / genetics
  • MELAS Syndrome / pathology
  • Magnetic Resonance Imaging
  • Microscopy, Electron
  • Muscles / pathology*
  • Polymerase Chain Reaction

Substances

  • DNA, Mitochondrial