An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure

Intern Med. 2001 Jul;40(7):662-5. doi: 10.2169/internalmedicine.40.662.

Abstract

A 25-year-old man developed a stroke-like episode. He suffered from renal failure and became dialysis-dependent. His mother was also dialysis-dependent. A3243G point mutation of the mitochondrial tRNA(leu) gene was detected in both of them. The patient was diagnosed with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), and died of a recurrence of stroke-like episodes at the age of 30. Autopsy revealed numerous abnormal mitochondria in the kidneys, but no renal vascular changes. This is the first report of a MELAS case in which the presence of numerous abnormal mitochondria in podocytes and tubules was confirmed by electron microscopy.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / complications*
  • Adult
  • Autopsy
  • Fatal Outcome
  • Humans
  • Kidney / pathology
  • Kidney Failure, Chronic / complications*
  • Kidney Failure, Chronic / genetics
  • Kidney Failure, Chronic / pathology
  • Kidney Failure, Chronic / therapy
  • MELAS Syndrome / complications*
  • MELAS Syndrome / genetics
  • Male
  • Mitochondrial Encephalomyopathies / complications*
  • Point Mutation
  • Renal Dialysis