title: Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case report.
abstract: We reported a patient with Leber's hereditary optic neuropathy (LHON) with an intracranial arteriovenous malformation (AVM). Genetic analysis of this patient revealed a point mutation in mitochondrial DNA (mtDNA) at nucleotide position 11,778 in the ND4 subunit of complex I. Although the relationship between intracranial AVM and mtDNA mutations remains uncertain, some patients with intracranial AVM may be associated with mitochondrial abnormality. Further study is necessary to confirm whether the above conditions are coincidental or closely interrelated.
authors.affiliation: Department of Neurology, Kyoto City Hospital, Kyoto, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Fujitake
authors.forename: Haruo
authors.initials: H
authors.lastname: Mizuta
authors.forename: Hayato
authors.initials: H
authors.lastname: Fujii
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Ishikawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Sasamoto
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Tatsuoka
mesh_terms: D000293:Adolescent; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics; D029242:Optic Atrophy, Hereditary, Leber / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D011859:Radiography
chemical_list: D004272:DNA, Mitochondrial