Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy

Ann Neurol. 2002 Sep;52(3):374-7. doi: 10.1002/ana.10299.


Leber's hereditary optic neuropathy is a mitochondrial disease caused by point mutations in mitochondrial DNA. It usually presents as severe bilateral visual loss in young adults. We report on a neurological disorder resembling Leigh syndrome, which complicated Leber's hereditary optic neuropathy in three unrelated male patients harboring mitochondrial DNA mutations at nucleotide positions 3460, 14459, and 14484, respectively. This Leigh-like encephalopathy appears to be associated with a much more severe outcome than isolated Leber's hereditary optic neuropathy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / pathology
  • Child
  • Fatal Outcome
  • Humans
  • Leigh Disease / complications*
  • Leigh Disease / pathology
  • Magnetic Resonance Imaging
  • Optic Atrophy, Hereditary, Leber / complications*
  • Optic Atrophy, Hereditary, Leber / pathology