title: Posterior reversible encephalopathy syndrome in a leber hereditary optic neuropathy patient with mitochondrial DNA 11778G>A point mutation.
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.
authors.affiliation: Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, China.
authors.forename: Yuwei
authors.initials: Y
authors.lastname: Da
authors.forename: Xuxiang
authors.initials: X
authors.lastname: Zhang
authors.forename: Fang
authors.initials: F
authors.lastname: Li
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Yang
authors.forename: Xinqing
authors.initials: X
authors.lastname: Zhang
authors.forename: Jianping
authors.initials: J
authors.lastname: Jia
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D054038:Posterior Leukoencephalopathy Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial