title: Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.
abstract: Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Gary
authors.initials: G
authors.lastname: Fruhman
authors.forename: Megan L
authors.initials: ML
authors.lastname: Landsverk
authors.forename: Timothy E
authors.initials: TE
authors.lastname: Lotze
authors.forename: Jill V
authors.initials: JV
authors.lastname: Hunter
authors.forename: Michael F
authors.initials: MF
authors.lastname: Wangler
authors.forename: Adekunle M
authors.initials: AM
authors.lastname: Adesina
authors.forename: Lee-Jun C
authors.initials: LJ
authors.lastname: Wong
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
mesh_terms: D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D045222:Electron Transport Chain Complex Proteins / Q000378:metabolism; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D007888:Leigh Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D018482:Muscle, Skeletal / Q000201:enzymology / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D004272:DNA, Mitochondrial; D045222:Electron Transport Chain Complex Proteins