title: Kearns-Sayre syndrome and complex II deficiency.
abstract: A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microscopy showed increased numbers of mitochondria with disordered structure and paracrystalline inclusions. Enzymatic analysis revealed a deficiency of complex II of the mitochondrial respiratory chain, and, more specifically, a deficiency of succinic dehydrogenase, although both subunits of this enzyme proved to be present by immunologic analysis. Therapy with vitamin cofactors did not result in short-term improvement. This appears to be the first report of complex II deficiency in a patient with KSS.
authors.affiliation: Department of Neurology, Medical College of Georgia, Augusta 30912-3215.
authors.forename: M H
authors.initials: MH
authors.lastname: Rivner
authors.forename: M
authors.initials: M
authors.lastname: Shamsnia
authors.forename: T R
authors.initials: TR
authors.lastname: Swift
authors.forename: J
authors.initials: J
authors.lastname: Trefz
authors.forename: R A
authors.initials: RA
authors.lastname: Roesel
authors.forename: A L
authors.initials: AL
authors.lastname: Carter
authors.forename: W
authors.initials: W
authors.lastname: Yanamura
authors.forename: F A
authors.initials: FA
authors.lastname: Hommes
mesh_terms: D000328:Adult; D001706:Biopsy; D042963:Electron Transport Complex II; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000473:pathology; D008854:Microscopy, Electron; D009097:Multienzyme Complexes / Q000172:deficiency*; D009132:Muscles / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D009886:Ophthalmoplegia / Q000150:complications*; D010088:Oxidoreductases / Q000172:deficiency*; D013385:Succinate Dehydrogenase / Q000172:deficiency* / Q000378:metabolism
chemical_list: D009097:Multienzyme Complexes; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase