title: Coenzyme Q-responsive Leigh's encephalopathy in two sisters.
abstract: A 31-year-old woman had encephalopathy, growth retardation, infantilism, ataxia, deafness, lactic acidosis, and increased signals of caudate and putamen on brain magnetic resonance imaging. Muscle biochemistry showed succinate:cytochrome c oxidoreductase (complex II-III) deficiency. Both clinical and biochemical abnormalities improved remarkably with coenzyme Q10 supplementation. Clinically, when taking 300mg coenzyme Q10 per day, she resumed walking, gained weight, underwent puberty, and grew 20cm between 24 and 29 years of age. Coenzyme Q10 was markedly decreased in cerebrospinal fluid, muscle, lymphoblasts, and fibroblasts, suggesting the diagnosis of primary coenzyme Q10 deficiency. An older sister has similar clinical course and biochemical abnormalities. These findings suggest that coenzyme Q10 deficiency can present as adult Leigh's syndrome.
authors.affiliation: Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium. vmalde@skypro.be
authors.forename: Lionel
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: Frans
authors.initials: F
authors.lastname: Trijbels
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Pavel J
authors.initials: PJ
authors.lastname: Sindelar
authors.forename: Olimpia
authors.initials: O
authors.lastname: Musumeci
authors.forename: Antoon
authors.initials: A
authors.lastname: Janssen
authors.forename: Xavier
authors.initials: X
authors.lastname: Delberghe
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Martin
authors.forename: Yves
authors.initials: Y
authors.lastname: Gillerot
mesh_terms: D000328:Adult; D003067:Coenzymes; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000188:drug therapy* / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D035781:Siblings; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency* / Q000627:therapeutic use*
chemical_list: D003067:Coenzymes; D014451:Ubiquinone; C024989:coenzyme Q10