Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature

J Child Neurol. 2014 Oct;29(10):NP105-10. doi: 10.1177/0883073813506783. Epub 2013 Nov 27.

Abstract

We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of clinical phenotypes ranging from infant lethality to adult onset. Despite infantile onset and severe symptoms, our patient has survived to early adulthood because of a strict dietary regimen and parental care. This patient is an extreme example of the frequently prolonged course of Leigh syndrome due to this particular mutation.

Keywords: Leigh syndrome; ND3; complex I deficiency; m.10191T>C; mitochondria.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Electron Transport Complex I / genetics*
  • Female
  • Humans
  • Leigh Disease / genetics*
  • Leigh Disease / physiopathology
  • Leigh Disease / therapy
  • Mutation
  • Phenotype

Substances

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