title: Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency.
abstract: Leigh syndrome (LS) is a heterogeneous disorder, usually due to a defect in oxidative metabolism. Typically, signs and symptoms commence in infancy or childhood, although rare cases of adult onset have been described. Progressive deterioration is the norm. The authors describe a 22-year-old woman with partial cytochrome c oxidase deficiency who developed fulminant LS following an acute febrile illness and who subsequently showed dramatic clinical and neuroradiologic improvement.
authors.affiliation: School of Medicine, Oregon Health & Science University, Portland 97201, USA.
authors.forename: P C
authors.initials: PC
authors.lastname: Goldenberg
authors.forename: R D
authors.initials: RD
authors.lastname: Steiner
authors.forename: L S
authors.initials: LS
authors.lastname: Merkens
authors.forename: T
authors.initials: T
authors.lastname: Dunaway
authors.forename: R A
authors.initials: RA
authors.lastname: Egan
authors.forename: E A
authors.initials: EA
authors.lastname: Zimmerman
authors.forename: G
authors.initials: G
authors.lastname: Nesbit
authors.forename: B
authors.initials: B
authors.lastname: Robinson
authors.forename: N G
authors.initials: NG
authors.lastname: Kennaway
mesh_terms: D000328:Adult; D001205:Ascorbic Acid / Q000008:administration & dosage; D001921:Brain / Q000473:pathology; D030401:Cytochrome-c Oxidase Deficiency / Q000188:drug therapy*; D004359:Drug Therapy, Combination; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology*; D008279:Magnetic Resonance Imaging; D012074:Remission Induction; D012256:Riboflavin / Q000008:administration & dosage; D013831:Thiamine / Q000008:administration & dosage; D014451:Ubiquinone / Q000008:administration & dosage
chemical_list: D014451:Ubiquinone; D001205:Ascorbic Acid; D012256:Riboflavin; D013831:Thiamine