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- W2318007921 abstract "Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that primarily affects the optic nerve. We report a case of reduced visual acuity secondary to optic atrophy in a 13-year-old boy. Transient seizures developed subsequently. Serial magnetic resonance imaging of the brain showed posterior reversible encephalopathy syndrome. Ragged red fibers were not detected on skeletal muscle biopsy. A 11778G>A mitochondrial DNA point mutation was identified in the lymphocytes isolated from peripheral blood. His younger brother was a carrier with the same mutation. The presentation of this case is unusual documenting LHON in association with PRES." @default.
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- W2318007921 date "2013-09-01" @default.
- W2318007921 modified "2023-10-14" @default.
- W2318007921 title "Posterior Reversible Encephalopathy Syndrome in a Leber Hereditary Optic Neuropathy Patient With Mitochondrial DNA 11778G>A Point Mutation" @default.
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- W2318007921 doi "https://doi.org/10.1097/wno.0b013e31828f8d75" @default.
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