Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
Leber's hereditary optic neuropathy is a mitochondrial disease caused by point mutations in mitochondrial DNA. It usually presents as severe bilateral visual loss in young adults. We report on a neurological disorder resembling Leigh syndrome, which complicated Leber's hereditary optic neuropathy in three unrelated male patients harboring mitochondrial DNA mutations at nucleotide positions 3460, 14459, and 14484, respectively. This Leigh-like encephalopathy appears to be associated with a much more severe outcome than isolated Leber's hereditary optic neuropathy.
Service de Neurologie, Hôpital Sainte-Anne, Paris, France. funalot@chsa.broca.inserm.fr
Benoît
B
Funalot
Pascal
P
Reynier
Alain
A
Vighetto
Danièle
D
Ranoux
Jean-Paul
JP
Bonnefont
Catherine
C
Godinot
Yves
Y
Malthièry
Jean-Louis
JL
Mas
D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D017809:Fatal Outcome; D006801:Humans; D007888:Leigh Disease / Q000150:complications* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000473:pathology