Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation

Mol Genet Metab. 2011 Jun;103(2):153-60. doi: 10.1016/j.ymgme.2011.02.014. Epub 2011 Feb 26.


Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Electron Transport Chain Complex Proteins / metabolism
  • Female
  • Gene Expression Regulation, Enzymologic
  • Humans
  • Leigh Disease / complications*
  • Leigh Disease / diagnosis
  • Leigh Disease / genetics*
  • Leigh Disease / physiopathology
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / metabolism
  • Mutation / genetics*
  • Optic Atrophy, Hereditary, Leber / complications*
  • Optic Atrophy, Hereditary, Leber / diagnosis
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Polymorphism, Genetic


  • DNA, Mitochondrial
  • Electron Transport Chain Complex Proteins