Central nervous system involvement in Leber's optic neuropathy

J Neurol. 1993;240(4):251-3. doi: 10.1007/BF00818714.


Six months after the onset of visual loss a 23-year-old male patient with Leber's optic neuropathy associated with a mitochondrial DNA mutation developed brain stem involvement with Parinaud's syndrome and oculopalatal myoclonus. Magnetic resonance imaging (MRI) revealed a high signal area in the brain stem, corresponding to a hypodense area in the CT scan that did not show contrast enhancement. Distinct diminution but not complete remission of the MRI findings was found in the 5-year follow-up, which was not accompanied by clinical improvement. Although the MRI findings were compatible with a demyelinating lesion, neither extensive evoked potential studies nor spinal fluid examination supported this.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain Stem / physiopathology*
  • DNA, Mitochondrial / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Myoclonus / complications
  • Optic Atrophies, Hereditary / complications
  • Optic Atrophies, Hereditary / genetics
  • Optic Atrophies, Hereditary / physiopathology*
  • Tomography, X-Ray Computed


  • DNA, Mitochondrial