Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report

BMC Neurol. 2017 Dec 13;17(1):217. doi: 10.1186/s12883-017-1001-4.

Abstract

Background: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS.

Case presentation: A 55-year-old man, who had no family or past history of mitochondrial disorders, suddenly developed bilateral visual field constriction and repeated stroke-like episodes. He ultimately presented with cortical blindness, recurrent epilepsy and severe cognitive impairment approximately 6 months after the first episode. Genetic analysis of biopsied biceps brachii muscle, but not of peripheral white blood cells, revealed a T10158C mutation in the mtDNA-encoded gene of NADH dehydrogenase subunit 3 (ND3), which has previously been thought to be associated with severe or fatal mitochondrial disorders that develop during the neonatal period or in infancy.

Conclusion: A T10158C mutation in the ND3 gene can cause atypical adult-onset stroke-like episodes in a sporadic manner.

Keywords: Cognitive impairment; MELAS; Mitochondrial ND3 gene; Sporadic; T10158C.

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics
  • Electron Transport Complex I / genetics*
  • Humans
  • MELAS Syndrome / complications*
  • MELAS Syndrome / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Stroke / genetics*

Substances

  • DNA, Mitochondrial
  • Electron Transport Complex I
  • MT-ND3 protein, human