kearns sayer syndrome - Medical Dictionary

Home | kearns sayer syndrome - Medical Dictionary |


kearns sayer syndrome		A mitochondrial disorder featuring the triad of chronic progressive external ophthalmoplegia, cardiomyopathy with conduction block ( heart block), and retinitis pigmentosa. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984) [ Books \| Images \| Discussion groups ]

Additional comments : (Kearns-Sayre-Shy-Daroff Syndrome) See also: Heart Block, Retinitis Pigmentosa, Ophthalmoplegia Articles Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report. Authors: Yerdelen D, Koc F, Koc Z Journal: Int J Neurosci Coinheritance of long QT syndrome and Kearns-Sayre syndrome. Authors: Skinner JR, Yang T, Purvis D, Chung SK, Roden DM, Rees MI Journal: Heart Rhythm Metabolic cardiomyopathy and mitochondrial disorders in the pediatric intensive care unit. Authors: Kane JM, Rossi J, Tsao S, Burton BK Journal: J Pediatr Kearns-Sayre sindrome with hypomagnesemia and cardiac block. Authors: Berio A, Oliaro E, Piazzi A Journal: Panminerva Med Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. Authors: Gupta SN, Marks HG Journal: J Neurol Sci Old versus new antiepileptic drugs: the SANAD study. Authors: Hadzi? N, Vara R, Raiman J, Mieli-Vergani G Journal: Lancet Craniofacial abnormalities in a patient with cytochrome-c-oxidase deficiency subsequently developing Kearns-Sayre syndrome. Authors: Berio A, Piazzi A Journal: Panminerva Med A 9-year-old boy with labored breathing. Authors: Listernick R Journal: Pediatr Ann Three cases of Kearns-Sayre syndrome with cardiac blocks. Authors: Berio A, Oliaro E, Piazzi A Journal: Panminerva Med Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? Authors: Auré K, Ogier de Baulny H, Laforêt P, Jardel C, Eymard B, Lombès A Journal: Brain The neurological evolution of Pearson syndrome: case report and literature review. Authors: Lee HF, Lee HJ, Chi CS, Tsai CR, Chang TK, Wang CJ Journal: Eur J Paediatr Neurol Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. Authors: Sanaker PS, Husebye ES, Fondenes O, Bindoff LA Journal: Acta Neurol Scand Suppl Facial anomalies in a patient with cytochrome-oxidase deficiency and subsequent Kearns-Sayre syndrome with growth hormone deficiency. Authors: Berio A, Piazzi A Journal: Minerva Med The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy. Authors: Maceluch JA, Niedziela M Journal: Pediatr Endocrinol Rev [Kearns-Sayre syndrome: recurrent syncope and atrial flutter] Authors: Hernández-Luis C, García-Morán E, Rubio-Sanz J, Fernández-Avilés F Journal: Rev Esp Cardiol Combined cyclic vomiting and Kearns-Sayre syndromes. Authors: Boles RG, Baldwin EE, Prezant TR Journal: Pediatr Neurol Torsades de pointes in a patient with Kearns-Sayre syndrome: a fortunate finding. Authors: Subbiah RN, Kuchar D, Baron D Journal: Pacing Clin Electrophysiol Kearns-Sayre syndrome, compensated hypothyroidism and complete atrio-ventricular block. Authors: Berio A, Piazzi A Journal: Panminerva Med Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Authors: Alemi M, Prigione A, Wong A, Schoenfeld R, DiMauro S, Hirano M, Taroni F, Cortopassi G Journal: Free Radic Biol Med Pathophysiology and management of syncope in Kearns-Sayre syndrome. Authors: Letsas KP, Efremidis M, Pappas LK, Gavrielatos G, Sideris A, Charitos C Journal: Am Heart Hosp J Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells. Authors: Mahata B, Mukherjee S, Mishra S, Bandyopadhyay A, Adhya S Journal: Science Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases. Authors: Sakai Y, Kira R, Torisu H, Ihara K, Yoshiura T, Hara T Journal: AJNR Am J Neuroradiol [Kearns-Sayre syndrome] Authors: Furuto-Kato S Journal: Nippon Rinsho Recurrent pancreatitis in mitochondrial cytopathy. Authors: Debray FG, Drouin E, Herzog D, Lortie A, Lambert M, Garel L, Mitchell GA, Michaud JL Journal: Am J Med Genet A [Mitochondrial DNA deletions in Kearns-Sayre syndrome] Authors: Carod-Artal FJ, Lopez Gallardo E, Solano A, Dahmani Y, Herrero MD, Montoya J Journal: Neurologia [Kearns-Sayre syndrome] Authors: Berio A, Piazzi A Journal: Pediatr Med Chir Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes. Authors: Hourani RG, Barada WM, Al-Kutoubi AM, Hourani MH Journal: Neuropediatrics [The outcome of pregnancy and delivery in primigravid pregnancy with Kearn-Sayre's syndrome] Authors: Krzemieniewska J, Wilczy?ski A, Zalewska D, Grybo? M, Grybo?-Jagielska A Journal: Ginekol Pol Kearns Sayre syndrome: an unusual form of mitochondrial diabetes. Authors: Laloi-Michelin M, Virally M, Jardel C, Meas T, Ingster-Moati I, Lombès A, Massin P, Chabriat H, Tielmans A, Mikol J, Guillausseau PJ Journal: Diabetes Metab Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA. Authors: Zoccolella S, Torraco A, Amati A, Lamberti P, Serlenga L, Papa S, Petruzzella V Journal: Funct Neurol A case of Kearns-Sayre sindrome with autoimmune thyroiditis and complete atrio-ventricular block. Authors: Berio A, Piazzi A Journal: Minerva Cardioangiol "Bartter-like" phenotype in Kearns-Sayre syndrome. Authors: Emma F, Pizzini C, Tessa A, Di Giandomenico S, Onetti-Muda A, Santorelli FM, Bertini E, Rizzoni G Journal: Pediatr Nephrol Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Authors: Pineda M, Ormazabal A, López-Gallardo E, Nascimento A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibáñez L, Montoya J, Artuch R Journal: Ann Neurol Primary open angle glaucoma in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). Authors: Frezzotti P, Frezzotti R Journal: Eur J Ophthalmol Re: deterioration of Kearns-Sayre syndrome following articaine administration for local anesthesia. Authors: Stehr SN, Oertel R, Schindler C, Hübler M Journal: Clin Neuropharmacol [Mitochondrial respiratory chain diseases. Evaluation and variability in 52 patients] Authors: Arpa-Gutiérrez FJ, Cruz-Martínez A, Campos-González Y, Gutiérrez-Molina M, Santiago-Pérez S, Pérez-Conde MC, López-Pajares MR, Martín-Casarrubias MA, Rubio-Muñoz JC, del Hoyo P, Arpa-Fernández A, Arenas-Barbero J Journal: Rev Neurol Therapeutic approach in a case of Pearson's syndrome. Authors: Zaffanello M, Zamboni G Journal: Minerva Pediatr [Surgical treatment of acquired myogenic eyelid ptosis] Authors: Becerra EM, Blanco G, Muiños Y, Bianciotto C Journal: Arch Soc Esp Oftalmol Deterioration of Kearns-Sayre syndrome following articaine administration for local anesthesia. Authors: Finsterer J, Haberler C, Schmiedel J Journal: Clin Neuropharmacol Kearns-Sayre syndrome: a case report and review of cardiovascular complications. Authors: Young TJ, Shah AK, Lee MH, Hayes DL Journal: Pacing Clin Electrophysiol Kearns-Sayre syndrome associated with trifascicular block and QT prolongation. Authors: Karanikis P, Korantzopoulos P, Kountouris E, Dimitroula V, Patsouras D, Pappa E, Siogas K Journal: Int J Cardiol [Cardiac involvement in Kearns-Sayre syndrome] Authors: Barrera-Ramírez CF, Barragán-Campos HM, Ilarraza H, Iturralde P, Avila-Casado MC, Oseguera J Journal: Rev Esp Cardiol Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome. Authors: Kornblum C, Broicher R, Walther E, Herberhold S, Klockgether T, Herberhold C, Schröder R Journal: J Neurol MRI findings in an atypical case of Kearns-Sayre syndrome: a case report. Authors: Sacher M, Fatterpekar GM, Edelstein S, Sansaricq C, Naidich TP Journal: Neuroradiology [Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation] Authors: Zhang Y, Wang ZX, Niu SL, Xu YF, Pei P, Yuan Y, Yang YL, Qi Y Journal: Zhongguo Yi Xue Ke Xue Yuan Xue Bao Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Authors: Remes AM, Majamaa-Voltti K, Kärppä M, Moilanen JS, Uimonen S, Helander H, Rusanen H, Salmela PI, Sorri M, Hassinen IE, Majamaa K Journal: Neurology Mitochondrial muscle pathology. Authors: Patterson K Journal: Pediatr Dev Pathol Correction of translational defects in patient-derived mutant mitochondria by complex-mediated import of a cytoplasmic tRNA. Authors: Mahata B, Bhattacharyya SN, Mukherjee S, Adhya S Journal: J Biol Chem Anesthetic management for cardioverter-defibrillator implantation in a patient with Kearns-Sayre syndrome. Authors: Hara K, Sata T, Shigematsu A Journal: J Clin Anesth 'Cerebral palsy' due to mitochondrial cytopathy. Authors: Mordekar SR, Baxter PS Journal: J Paediatr Child Health Common and cell type-specific responses of human cells to mitochondrial dysfunction. Authors: Miceli MV, Jazwinski SM Journal: Exp Cell Res [Complete heart blockade, external ophthalmoplegia, and pigmentary retinitis] Authors: Rodríguez Blanco V, Möller Bustinza I, González Camino F, Ablanedo Ablanedo P, Casares García G Journal: Rev Clin Esp Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Authors: Santra S, Gilkerson RW, Davidson M, Schon EA Journal: Ann Neurol Clinical features of A3243G mitochondrial tRNA mutation. Authors: Chae JH, Hwang H, Lim BC, Cheong HI, Hwang YS, Kim KJ Journal: Brain Dev Kearns-Sayre syndrome -3 case reports and review of clinical feature. Authors: Park SB, Ma KT, Kook KH, Lee SY Journal: Yonsei Med J Risk of developing a mitochondrial DNA deletion disorder. Authors: Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM Journal: Lancet Clinical laboratory monitoring of coenzyme Q10 use in neurologic and muscular diseases. Authors: Steele PE, Tang PH, DeGrauw AJ, Miles MV Journal: Am J Clin Pathol [Kearns-Sayre syndrome associated with growth hormone deficiency] Authors: De Sanctis V, Calzolari F, Piazzi A, Berio A Journal: Pediatr Med Chir Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy. Authors: Akman CI, Sue CM, Shanske S, Tanji K, Bonilla E, Ojaimi J, Krishna S, Schubert R, DiMauro S Journal: J Child Neurol [Pulmonary thromboembolism as a late complication of mitochondrial myopathy (Kearns-Sayer syndrome ] Authors: Fijo?ek J, Wiatr E, Wiechecka A, Torbicki A, Biederman A, Mickielewicz A, Roszkowski-Sliz K Journal: Pneumonol Alergol Pol A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea. Authors: De Block CE, De Leeuw IH, Maassen JA, Ballaux D, Martin JJ Journal: Exp Clin Endocrinol Diabetes Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects. Authors: Wenchich L, Drahota Z, Honzík T, Hansíková H, Tesarová M, Zeman J, Houstek J Journal: Physiol Res Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load. Authors: Wong LJ, Perng CL, Hsu CH, Bai RK, Schelley S, Vladutiu GD, Vogel H, Enns GM Journal: J Med Genet Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. Authors: Puoti G, Carrara F, Sampaolo S, De Caro M, Vincitorio CM, Invernizzi F, Zeviani M Journal: J Med Genet Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection. Authors: Pistilli D, di Gioia CR, D'Amati G, Sciacchitano S, Quaglione R, Quitadamo R, Casali C, Gallo P, Santorelli FM Journal: Hum Pathol Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns-Sayre syndrome. Authors: Müller W, Mennel HD, Bewermeyer K, Bewermeyer H Journal: Clin Neuropathol Kearns-Sayre syndrome, abnormal corneal endothelium and normal tension glaucoma. Authors: Zarnowski T, Jaksch M, Rejdak R, Zagórski Z Journal: Acta Ophthalmol Scand Sustained polymorphic ventricular tachycardia unassociated with QT prolongation or bradycardia in the Kearns-Sayre syndrome. Authors: Oginosawa Y, Abe H, Nagatomo T, Mizuki T, Nakashima Y Journal: Pacing Clin Electrophysiol [Maxillo-facial abnormalities in Kearns-Sayre syndrome] Authors: Piazzi A, Berio A Journal: Pediatr Med Chir A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Authors: Nishigaki Y, Tadesse S, Bonilla E, Shungu D, Hersh S, Keats BJ, Berlin CI, Goldberg MF, Vockley J, DiMauro S, Hirano M Journal: Neuromuscul Disord Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA. Authors: Solano A, Gámez J, Carod FJ, Pineda M, Playán A, López-Gallardo E, Andreu AL, Montoya J Journal: J Med Genet A review of cochlear implantation in mitochondrial sensorineural hearing loss. Authors: Sinnathuray AR, Raut V, Awa A, Magee A, Toner JG Journal: Otol Neurotol [Diagnostic and therapeutic problems in chronic progressive external ophthalmoplegia (CPEO)] Authors: Sommer F, Fötzsch R, Pillunat LE, Wollensak G Journal: Klin Monatsbl Augenheilkd Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Authors: Bosbach S, Kornblum C, Schröder R, Wagner M Journal: Brain Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions. Authors: Odoardi F, Rana M, Broccolini A, Mirabella M, Modoni A, D'Amico A, Papacci M, Tonali P, Servidei S, Silvestri G Journal: Am J Med Genet A Bilateral spontaneous corneal perforation associated with complete external ophthalmoplegia in mitochondrial myopathy (kearns-sayre syndrome). Authors: Schmitz K, Lins H, Behrens-Baumann W Journal: Cornea [Pigmented retinopathy as a presenting sign of mitochondrial encephalomyopathy without external ophthalmoplegia] Authors: Staudt S, Joussen AM, Rating D, Wilichowski E, Kolling G, Holz FG Journal: Ophthalmologe Mitochondrial cytopathies. Authors: Schmiedel J, Jackson S, Schäfer J, Reichmann H Journal: J Neurol Corneal decompensation in a boy with Kearns-Sayre syndrome. Authors: Boonstra F, Claerhout I, Hol F, Smit G, van Collenburg J, Meire F Journal: Ophthalmic Genet Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype. Authors: Marín-García J, Goldenthal MJ, Filiano JJ Journal: J Child Neurol A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associated with a novel 7,704-bp deletion. Authors: Vázquez-Acevedo M, Vázquez-Memije ME, Mutchinick OM, Morales JJ, García-Ramos G, González-Halphen D Journal: Neurol Sci [Pacemaker therapy in Kearns-Sayre syndrome] Authors: Usui M, Takagi Y, Masumoto H, Ueda U Journal: Kyobu Geka Severe mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletions. Authors: Marín-García J, Goldenthal MJ, Flores-Sarnat L, Sarnat HB Journal: Pediatr Neurol Mitochondrial disease mimicking polymyositis: a case report. Authors: Corrado A, Cantatore FP, Serlenga L, Amati A, Petruzzella V, Lapadula G Journal: Clin Rheumatol Chronic progressive external ophthalmoplegia. Authors: Lee AG, Brazis PW Journal: Curr Neurol Neurosci Rep Neurological mitochondrial cytopathies. Authors: Mehndiratta MM, Agarwal P, Tatke M, Krishnamurthy M Journal: Neurol India A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy. Authors: Berio A, Piazzi A Journal: Panminerva Med [Heart block] Authors: Nakano K, Nakayama T, Sasaki K Journal: Nippon Rinsho [Parathyroid dysfunction and mitochondrial diseases] Authors: Ohno Y, Aoki N Journal: Nippon Rinsho [Dysphagia] Authors: Ibi T, Nakao N, Sahashi K Journal: Nippon Rinsho [Mitochondria and conduction disturbance] Authors: Obayashi T, Ito T Journal: Nippon Rinsho [Ophthalmoplegia] Authors: Terada M, Mitsunami K, Maeda K, Yasuda H Journal: Nippon Rinsho [Encephalomyopathy] Authors: Nakase H Journal: Nippon Rinsho [Single deletion of mitochondrial DNA: CPEO, Kearns-Sayre syndrome] Authors: Arisato T, Higuchi I, Nakagawa M Journal: Nippon Rinsho [Autosomal recessive chronic progressive external ophthalmoplegia] Authors: Inose M, Higuchi I Journal: Nippon Rinsho [Autosomal dominant chronic progressive external ophthalmoplegia] Authors: Higuchi I, Nakagawa M Journal: Nippon Rinsho [Neuroimaging of mitochondrial diseases] Authors: Goto T, Momoi MY Journal: Nippon Rinsho Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayre syndrome. Authors: Katsanos KH, Pappas CJ, Patsouras D, Michalis LK, Kitsios G, Elisaf M, Tsianos EV Journal: Int J Cardiol [Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome] Authors: Capková M, Tesarová M, Wenchich L, Cerná L, Hansíková H, H?lková H, Hrubá E, Elleder M, Zeman J Journal: Cas Lek Cesk Kearns-Sayre syndrome: association with long QT syndrome? Authors: Rashid A, Kim MH Journal: J Cardiovasc Electrophysiol

Back