A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease

Intern Med. 1994 Sep;33(9):543-6. doi: 10.2169/internalmedicine.33.543.

Abstract

A 50-year-old woman with subacute dementia and brain atrophy on CT showed periodic synchronous discharge (PSD) on electroencephalogram (EEG) and myoclonus. She was initially suspected of suffering from Creutzfeldt-Jakob disease (CJD), but dramatically recovered over 5 months. Based on further investigations, the final diagnosis was mitochondrial encephalomyopathy with an A-to-G substitution at nucleotide position 3243 in mitochondrial DNA (mtDNA), commonly seen in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). This case suggests that patients suspected of suffering from CJD should be evaluated for mitochondrial encephalomyopathy.

Publication types

  • Case Reports

MeSH terms

  • Creutzfeldt-Jakob Syndrome / diagnosis
  • DNA, Mitochondrial / genetics
  • Dementia / diagnosis
  • Diagnosis, Differential
  • Female
  • Humans
  • MELAS Syndrome / diagnosis
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / pathology
  • Middle Aged
  • Point Mutation
  • RNA, Transfer, Leu / genetics

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, Leu