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 neu...

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Bibliographic Details
Published in:Annals of neurology 2002-09, Vol.52 (3), p.374-377
Main Authors: Funalot, Benoît, Reynier, Pascal, Vighetto, Alain, Ranoux, Danièle, Bonnefont, Jean-Paul, Godinot, Catherine, Malthièry, Yves, Mas, Jean-Louis
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Brain - pathology
Child
Diseases of visual field, optic nerve, optic chiasma and optic tracts
Errors of metabolism
Fatal Outcome
Humans
Leigh Disease - complications
Leigh Disease - pathology
Magnetic Resonance Imaging
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Ophthalmology
Optic Atrophy, Hereditary, Leber - complications
Optic Atrophy, Hereditary, Leber - pathology
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Summary: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.
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.10299