title: Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome.
abstract: Two siblings with Leigh syndrome presenting at the age of 6 months with clinical and radiological features suggestive of a leukodystrophy are reported. A deficiency in complex IV of the respiratory chain (cytochrome c oxidase) was demonstrated in muscle mitochondria of both patients. To our knowledge, this is the first familial case of Leigh syndrome due to cytochrome c oxidase deficiency, presenting clinically and radiologically with signs of a leukodystrophic process. We suggest that respiratory chain enzyme defects should be considered in the differential diagnosis of cases suggestive of a leukodystrophy.
authors.affiliation: Kinderpoliklinik, Ludwig-Maximilian-University of Munich, Germany.
authors.forename: D I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: B
authors.initials: B
authors.lastname: Koletzko
authors.forename: W
authors.initials: W
authors.lastname: Mueller-Felber
authors.forename: I
authors.initials: I
authors.lastname: Paetzke
authors.forename: G
authors.initials: G
authors.lastname: Kueffer
authors.forename: M
authors.initials: M
authors.lastname: Jensen
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D030401:Cytochrome-c Oxidase Deficiency; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology; D014057:Tomography, X-Ray Computed