메뉴 건너뛰기




Volumn 79, Issue 5, 2012, Pages 650-654

Kearns sayre syndrome - Case report with review of literature

Author keywords

Chronic progressive external ophthalmoplegia with ragged red fibers; CPEO (Chronic progressive external ophthalmoplegia with myopathy); Kearns Sayre's syndrome; Oculo cranio somatic neuromuscular disease with ragged red fibers

Indexed keywords

ADOLESCENT; ARTICLE; BRAIN ATROPHY; BRAIN INFARCTION; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DYSARTHRIA; ELECTRORETINOGRAPHY; EYE DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KEARNS SAYRE SYNDROME; LABORATORY TEST; LIMB WEAKNESS; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; NIGHT BLINDNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SENSORY DYSFUNCTION; SPEECH DISORDER; WALKING DIFFICULTY;

EID: 84862855662     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-011-0618-3     Document Type: Article
Times cited : (20)

References (23)
  • 1
    • 84924635809 scopus 로고
    • Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: Unusual syndrome with histologic study in one of two cases
    • Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: Unusual syndrome with histologic study in one of two cases. Arch Ophthalmol. 1958;60:280-9.
    • (1958) Arch Ophthalmol , vol.60 , pp. 280-9
    • Kearns, T.P.1    Sayre, G.P.2
  • 2
    • 33745882425 scopus 로고
    • Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block: Report of a case, with findings at autopsy
    • Jager BV, Fred HL, Butler RB, Carnes WH. Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block: Report of a case, with findings at autopsy. Am J Med. 1960;29:888.
    • (1960) Am J Med , vol.29 , pp. 888
    • Jager, B.V.1    Fred, H.L.2    Butler, R.B.3    Carnes, W.H.4
  • 3
    • 0010537461 scopus 로고
    • External ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy: A newly recognized syndrome
    • Kearns TP. External ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy: a newly recognized syndrome. Trans Am Ophthlamol Soc. 1965;63:559-625.
    • (1965) Trans Am Ophthlamol Soc , vol.63 , pp. 559-625
    • Kearns, T.P.1
  • 4
    • 0017338735 scopus 로고
    • Lumping or splitting? Ophthalmoplegia plus or Kearns-Sayre syndrome?
    • Berenberg RA. Lumping or splitting? Ophthalmoplegia plus or Kearns-Sayre syndrome? Ann Neurol. 1977;1:37-43.
    • (1977) Ann Neurol , vol.1 , pp. 37-43
    • Berenberg, R.A.1
  • 8
    • 0027525492 scopus 로고
    • Mitochondrial encephalomyopathies
    • DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol. 1993;50:1197-208.
    • (1993) Arch Neurol , vol.50 , pp. 1197-208
    • Dimauro, S.1    Moraes, C.T.2
  • 9
    • 0032714431 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy of late presentation with progressive with progressive ophthalmoplegia, tremor and diffuse leukoencephalopathy
    • Franco E, Bautista J, Kuque R, et al. Mitochondrial encephalomyopathy of late presentation with progressive with progressive ophthalmoplegia, tremor and diffuse leukoencephalopathy. Neurologia. 1999;9:463-6.
    • (1999) Neurologia , vol.9 , pp. 463-6
    • Franco, E.1    Bautista, J.2    Kuque, R.3
  • 10
    • 0024420201 scopus 로고
    • Myoclonus epilepsy and ragged red fibres (MERRF)
    • Berkovic SF, Carpenter SE, Evans A, et al. Myoclonus epilepsy and ragged red fibres (MERRF). Brain. 1989;112:1231-60.
    • (1989) Brain , vol.112 , pp. 1231-60
    • Berkovic, S.F.1    Carpenter, S.E.2    Evans, A.3
  • 11
    • 0026773036 scopus 로고
    • Endocrine dysfunction in Kearns-Sayre syndrome
    • Harvey JN, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol. 1992;37:97-104.
    • (1992) Clin Endocrinol , vol.37 , pp. 97-104
    • Harvey, J.N.1    Barnett, D.2
  • 12
    • 0035001156 scopus 로고    scopus 로고
    • Severe hypomagnesemia and hypoparathy-roidism inKearns-Sayre syndrome
    • Katsanos KH, Elisaf M, Bairaktari E, Tsianos EV. Severe hypomagnesemia and hypoparathy-roidism inKearns-Sayre syndrome. Am J Nephrol. 2001;21:150-3.
    • (2001) Am J Nephrol , vol.21 , pp. 150-3
    • Katsanos, K.H.1    Elisaf, M.2    Bairaktari, E.3    Tsianos, E.V.4
  • 13
    • 0023813744 scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology. 1988;38:1339-46.
    • (1988) Neurology , vol.38 , pp. 1339-46
    • Zeviani, M.1    Moraes, C.T.2    Dimauro, S.3
  • 14
    • 0023877476 scopus 로고
    • Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
    • Lestienne P, Ponsot G. Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet. 1988;1:885.
    • (1988) Lancet , vol.1 , pp. 885
    • Lestienne, P.1    Ponsot, G.2
  • 16
    • 0032763779 scopus 로고    scopus 로고
    • A unique 3. 5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome
    • Lertrit P, Imsumran A, Karnkirawattana P, et al. A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome. Hum Genet. 1999;105:127-31.
    • (1999) Hum Genet , vol.105 , pp. 127-31
    • Lertrit, P.1    Imsumran, A.2    Karnkirawattana, P.3
  • 17
    • 0034943837 scopus 로고    scopus 로고
    • A new mithocondrial point mutation in the transfer RNA (Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome
    • Seneca S, Verhelst H, De Meirleir L, et al. A new mithocondrial point mutation in the transfer RNA (Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Arch Neurol. 2001;58:1113-8.
    • (2001) Arch Neurol , vol.58 , pp. 1113-8
    • Seneca, S.1    Verhelst, H.2    De Meirleir, L.3
  • 19
    • 0033435127 scopus 로고    scopus 로고
    • MRI of the brain in the Kearns Sayre syndrome: Report of four cases and a review
    • Chu BC, Terae S, Takahashi C, et al. MRI of the brain in the Kearns Sayre syndrome: report of four cases and a review. Neuroradiology. 1999;41:759-64.
    • (1999) Neuroradiology , vol.41 , pp. 759-64
    • Chu, B.C.1    Terae, S.2    Takahashi, C.3
  • 20
    • 0021940365 scopus 로고
    • Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q (10) in Kearns-Sayre syndrome
    • Ogasahara S, Yorifuji S, Nishikawa Y, et al. Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q (10) in Kearns-Sayre syndrome. Neurology. 1985;35:372-7.
    • (1985) Neurology , vol.35 , pp. 372-7
    • Ogasahara, S.1    Yorifuji, S.2    Nishikawa, Y.3
  • 21
    • 0033218204 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome an absolute indication for prophylactic implantation definite pacemaker?
    • Barragan-Campos HM, Barrer-Ramirez CF, Iturralde Torres P, et al. Kearns-Sayre syndrome an absolute indication for prophylactic implantation definite pacemaker? Arch Inst Cardiol Mex. 1999;69:559-65.
    • (1999) Arch Inst Cardiol Mex , vol.69 , pp. 559-65
    • Barragan-Campos, H.M.1    Barrer-Ramirez, C.F.2    Iturralde Torres, P.3
  • 22
    • 0037109150 scopus 로고    scopus 로고
    • ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia device
    • Gregoratos G, Abrams J, Epstein AE, et al. ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia device. Circulation. 2002;106:2145.
    • (2002) Circulation , vol.106 , pp. 2145
    • Gregoratos, G.1    Abrams, J.2    Epstein, A.E.3
  • 23


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.