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Volumn 42, Issue 3, 2000, Pages 246-249

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO Syndrome) in a Turkish child

Author keywords

Brainstem atrophy; Infantile spasm; Optic atrophy; PEHO syndrome

Indexed keywords

ARTICLE; CASE REPORT; DEGENERATIVE DISEASE; EDEMA; HUMAN; INFANT; INFANTILE SPASM; MALE; MULTIPLE MALFORMATION SYNDROME; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; SYNDROME; TURKEY (REPUBLIC);

EID: 0034218247     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (19)
  • 1
    • 0025828441 scopus 로고
    • Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)
    • Salonen R, Somer M, Haltia M, Lorentz M, Norio R. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 1991; 39: 287-293.
    • (1991) Clin Genet , vol.39 , pp. 287-293
    • Salonen, R.1    Somer, M.2    Haltia, M.3    Lorentz, M.4    Norio, R.5
  • 2
    • 0027260792 scopus 로고
    • Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythymia, and optic atrophy (the PEHO syndrome)
    • Somer M, Sainio K. Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythymia, and optic atrophy (the PEHO syndrome). Epilepsia 1993; 34: 727-731.
    • (1993) Epilepsia , vol.34 , pp. 727-731
    • Somer, M.1    Sainio, K.2
  • 3
    • 0027312515 scopus 로고
    • PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): Neuroradiologic findings
    • Somer M, Salonen O, Pihko H, Norio R. PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. AJNR 1993; 14: 861-867.
    • (1993) AJNR , vol.14 , pp. 861-867
    • Somer, M.1    Salonen, O.2    Pihko, H.3    Norio, R.4
  • 4
    • 0027281559 scopus 로고
    • The PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): Ophthalmological findings and differential diagnosis
    • Somer M, Setala K, Kivela T, Haltia M, Norio R. The PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): ophthalmological findings and differential diagnosis. Neuro-ophthalmology 1993; 13: 65-74.
    • (1993) Neuro-ophthalmology , vol.13 , pp. 65-74
    • Somer, M.1    Setala, K.2    Kivela, T.3    Haltia, M.4    Norio, R.5
  • 5
    • 0027516363 scopus 로고
    • Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome)
    • Haltia M, Somer M. Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). Acta Neuropathol 1993; 85: 241-247.
    • (1993) Acta Neuropathol , vol.85 , pp. 241-247
    • Haltia, M.1    Somer, M.2
  • 6
    • 0028851602 scopus 로고
    • Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanase siblings
    • Fujimoto S, Yokochi K, Nakano M, Wada Y. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanase siblings. Neuropediatrics 1995; 26: 270-272.
    • (1995) Neuropediatrics , vol.26 , pp. 270-272
    • Fujimoto, S.1    Yokochi, K.2    Nakano, M.3    Wada, Y.4
  • 7
    • 0030297609 scopus 로고    scopus 로고
    • Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)
    • Shevell MI, Colangelo P, Treacy E, Polomeno RC, Roseblatt B. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Pediatr Neurol 1996; 15: 337-339.
    • (1996) Pediatr Neurol , vol.15 , pp. 337-339
    • Shevell, M.I.1    Colangelo, P.2    Treacy, E.3    Polomeno, R.C.4    Roseblatt, B.5
  • 8
    • 0027485454 scopus 로고
    • Diagnostic criteria and genetics of the PEHO syndrome
    • Somer M. Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 1993; 30: 932-936.
    • (1993) J Med Genet , vol.30 , pp. 932-936
    • Somer, M.1
  • 9
    • 0042580107 scopus 로고
    • New York: Churchill Livingstone Inc.
    • st ed). New York: Churchill Livingstone Inc.; 1990: 342-345.
    • (1990) st Ed) , pp. 342-345
    • Kirkwood, J.R.1
  • 11
    • 0027771377 scopus 로고
    • Pontocerebellar hypoplasia S. An overview of a gorup of inherited neurodegenerative disorders with fetal onset
    • Barth PG. Pontocerebellar hypoplasia S. An overview of a gorup of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993; 15: 411-422.
    • (1993) Brain Dev , vol.15 , pp. 411-422
    • Barth, P.G.1
  • 12
    • 0028872285 scopus 로고
    • The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Complied data from 10 pedigrees
    • Barth PG, Blennow G, Lenard HG, et al. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): complied data from 10 pedigrees. Neurology 1995; 45: 311-317.
    • (1995) Neurology , vol.45 , pp. 311-317
    • Barth, P.G.1    Blennow, G.2    Lenard, H.G.3
  • 13
    • 0031290369 scopus 로고    scopus 로고
    • Carbohydrate-deficient glycoconjugate (CDG) syndromes: A new chapter of neuropaediatrics
    • Jaeken J, Casaer P. Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics. Eur J Paediatr Neurol 1997; 3: 61-66.
    • (1997) Eur J Paediatr Neurol , vol.3 , pp. 61-66
    • Jaeken, J.1    Casaer, P.2
  • 14
    • 0029831021 scopus 로고    scopus 로고
    • Clinical and magnetic resonance imaging features of L-2 hydroxyglutaric acidemia: Report of three cases in comparison with Canavan disease
    • Topçu M, Erdem G, Saatçi I, et al. Clinical and magnetic resonance imaging features of L-2 hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease. J Child Neurol 1996; 11: 373-377.
    • (1996) J Child Neurol , vol.11 , pp. 373-377
    • Topçu, M.1    Erdem, G.2    Saatçi, I.3
  • 15
    • 0025761309 scopus 로고
    • CT and MR studies of methylmalonic acidemia
    • Andreula CF, De Blasi R, Carella A. CT and MR studies of methylmalonic acidemia. AJNR 1991; 12: 410-412.
    • (1991) AJNR , vol.12 , pp. 410-412
    • Andreula, C.F.1    De Blasi, R.2    Carella, A.3
  • 16
    • 0021482851 scopus 로고
    • Krabbe's disease: Clinical presentation of neurological variants
    • Hagberg B. Krabbe's disease: clinical presentation of neurological variants. Neuropediatrics 1984; 15: 11-15.
    • (1984) Neuropediatrics , vol.15 , pp. 11-15
    • Hagberg, B.1
  • 17
    • 0023917834 scopus 로고
    • Infantile Refsum's disease: A generalized peroxisomal disorder. Case report with postmortem examination
    • Torvik A, Torp S, Kase BF, Ek J, Skejeldal O, Strokke O. Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination. J Neurol Sci 1988; 85: 39-53.
    • (1988) J Neurol Sci , vol.85 , pp. 39-53
    • Torvik, A.1    Torp, S.2    Kase, B.F.3    Ek, J.4    Skejeldal, O.5    Strokke, O.6
  • 18
    • 0022222913 scopus 로고
    • Biotinidase deficiency: Initial clinical features and rapid diagnosis
    • Wolf B, Heard GS, Weissbecker KA, et al. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 1985; 18: 614-617.
    • (1985) Ann Neurol , vol.18 , pp. 614-617
    • Wolf, B.1    Heard, G.S.2    Weissbecker, K.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.