Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings

J Neurol Sci. 1996 Feb;135(2):176-80. doi: 10.1016/0022-510x(95)00287-c.


A mother and her son are reported who suffer from Leber's hereditary optic neuropathy (LHON) with the 11778 mtDNA mutation. In both subjects additional clinical and paraclinical evidence of a cerebral demyelinating disease was found. This combination has been reported incidentally in females, rarely in males. Magnetic resonance imaging and proton spectroscopy findings are reported. These findings are compatible with multiple sclerosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Brain / pathology*
  • Female
  • Follow-Up Studies
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / pathology
  • Mutation
  • Optic Atrophies, Hereditary / genetics*
  • Optic Atrophies, Hereditary / pathology