Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case report.
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.
Fujitake
Junko
J
Department of Neurology, Kyoto City Hospital, Kyoto, Japan.
Mizuta
Haruo
H
Fujii
Hayato
H
Ishikawa
Yasuhiro
Y
Sasamoto
Kenji
K
Goto
Yu-ichi
Y
Nonaka
Ikuya
I
Tatsuoka
Yoshihisa
Y
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
D004272:DNA, Mitochondrial