Central nervous system involvement in Leber's optic neuropathy.
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.
Abteilung Neurologie und Radiologie, Klinikum Grosshadern, München, Germany.
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W
Paulus
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Straube
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Bauer
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Harding
D000328:Adult; D001933:Brain Stem / Q000503:physiopathology*; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009207:Myoclonus / Q000150:complications; D015418:Optic Atrophies, Hereditary / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed
D004272:DNA, Mitochondrial