title: Renal and skin involvement in a patient with complete Kearns-Sayre syndrome.
abstract: We report on a 13-year-old girl with complete Kearns-Sayre syndrome (KSS) and unusual manifestations of anhidrosis and de Toni-Fanconi-Debré syndrome which preceded by several years the onset of KSS triad. Histochemical examination of skeletal muscle showed focal deficiency of cytochrome c oxidase (CCO). Southern blot analysis of mitochondrial DNA (mtDNA) demonstrated a deletion of 5.4 kb in 60% of the total mtDNAs isolated from the muscle and kidney. On electron microscopy, epithelial cells of the proximal and distal renal tubules and the sweat glands showed an increased number of giant mitochondria with complicated and concentric cristae. This appears to be the first report of complete KSS associated with renal and skin involvement. Data obtained in this patient provide important information on the clinical heterogeneity and tissue specificity of CCO deficiency.
authors.affiliation: Department of Pediatrics, Okayama University, School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Mori
authors.forename: K
authors.initials: K
authors.lastname: Narahara
authors.forename: S
authors.initials: S
authors.lastname: Ninomiya
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D000293:Adolescent; D001706:Biopsy; D015139:Blotting, Southern; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000032:analysis; D003576:Electron Transport Complex IV / Q000235:genetics; D005198:Fanconi Syndrome / Q000235:genetics / Q000473:pathology; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007007:Hypohidrosis / Q000150:complications / Q000235:genetics / Q000473:pathology; D007625:Kearns-Sayre Syndrome / Q000235:genetics* / Q000473:pathology; D007668:Kidney / Q000737:chemistry / Q000473:pathology*; D009132:Muscles / Q000737:chemistry / Q000201:enzymology; D012867:Skin / Q000473:pathology*
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV