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Leber’s hereditary optic neuropathy (LHON) is “classically” characterized by subacute visual loss in young adult men.1 The disorder is associated with the presence of several distinct mutations in mitochondrial DNA, the most frequent being a guanine-to-adenine base pair substitution at position 11,778 in the gene coding for nicotinamide adenine dinucleotide dehydrogenase subunit 4 of complex I of the respiratory chain.2 Recently, a familial multisystem degeneration with parkinsonism associated with this mutation (G11778A) was reported.3
Case report.
A 26-year-old man with an undefined progressive multisystem neurodegenerative disorder developed acute bilateral ptosis, nystagmus, and extraocular muscle weakness. He had normal developmental milestones until age 8, when he began to show gait, speech, and intellectual abnormalities. At age 13, he was found to have cognitive dysfunction with low Wechsler Intelligence Scale for Children–Revised verbal (65), performance (52), and full-scale (55) IQ scores. A mild spastic gait with bilateral hyperreflexia and Babinski signs, dysarthric …
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