Clinical manifestations in children with mitochondrial diseases

Pediatric Neurology

Volumn 43, Issue 3, 2010, Pages 183-189

  Chi, Ching Shiang ^a,b   Lee, Hsiu Fen ^b,c   Tsai, Chi Ren ^c,d   Lee, Huei Jane ^b   Chen, Liang Hui ^c  

^a TUNGS' TAICHUNG METROHARBOR HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^d NATIONAL CHUNG HSING UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; APNEA; ARTICLE; CARDIOVASCULAR SYSTEM; CENTRAL NERVOUS SYSTEM DISEASE; CHI SQUARE DISTRIBUTION; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EYE MOVEMENT; FEMALE; GENE MUTATION; HEADACHE; HISTOPATHOLOGY; HUMAN; INFANT; LABORATORY DIAGNOSIS; LACTATE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL GENE; ONSET AGE; ORAL GLUCOSE TOLERANCE TEST; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; STATISTICAL SIGNIFICANCE;

ADMINISTRATION, ORAL; ADOLESCENT; APNEA; CARDIOVASCULAR DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; GLUCOSE; HEADACHE; HUMANS; INFANT; LACTIC ACID; MALE; MICROSCOPY, ELECTRON, SCANNING; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; OCULAR MOTILITY DISORDERS; RETROSPECTIVE STUDIES; TAIWAN;

EID: 77955536061     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.04.015     Document Type: Article

References (27)

1. R. Luft, D. Ikkos, G. Palmieri, L. Ernster, and B. Afzelius A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical and morphological study J Clin Invest 41 1962 1776 1804
2. D. Skladal, J. Halliday, and D.R. Thorburn Minimum birth prevalence of mitochondrial respiratory chain disorders in children Brain 136 2003 1905 1912
3. N. Darin, A. Oldfors, A.R. Moslemi, E. Holme, and M. Tulinius The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities Ann Neurol 49 2001 377 383
4. F. Scaglia, J.A. Towbin, and W.J. Craigen Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Pediatrics 114 2004 925 931
5. A. García-Cazorla, P. De Lonlay, M.C. Nassogne, P. Rustin, G. Touati, and J.M. Saudubray Long-term follow-up of neonatal mitochondrial cytopathies: A study of 57 patients Pediatrics 116 2005 1170 1177
6. F.G. Debray, M. Lambert, and I. Chevalier Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases Pediatrics 119 2007 722 733
7. A. Munnich, A. Rötig, and D. Chretien Clinical presentation of mitochondrial disorders in childhood J Inherit Metab Dis 19 1996 521 527
8. C.S. Chi, S.C. Mak, W.J. Shian, and C.H. Chen Oral glucose lactate stimulation test in mitochondrial diseases Pediatr Neurol 8 1992 445 449
9. F.P. Bernier, A. Boneh, X. Dennett, C.W. Chow, M.A. Cleary, and D.R. Thorburn Diagnostic criteria for respiratory chain disorders in adults and children Neurology 59 2002 1406 1411
10. D. Leigh Subacute necrotizing encephalomyelopathy in an infant J Neurol Neurosurg Psychiatry 14 1951 216 221
11. T.P. Kearns, and G.P. Sayre Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: Unusual syndrome with histologic study in one of two cases AMA Arch Ophthalmol 60 1958 280 289
12. H.A. Pearson, J.S. Lobel, and S.A. Kocoshis A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction J Pediatr 95 1979 976 984
13. S. DiMauro, J.R. Mendell, and Z. Sahenk Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency Neurology 30 1980 795 804
14. N. Fukuhara, S. Tokiguchi, Shirakawa, and T. Tsubaki Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): Disease entity or a syndrome? Light- and electron-microscopic studies of two cases and review of the literature J Neurol Sci 47 1980 117 133
15. J.M. Shoffner, M.T. Lott, A.M. Lezza, P. Seibel, S.W. Ballinger, and D.C. Wallace Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation Cell 61 1990 931 937
16. H. Mitsumoto, J.R. Aprille, S.H. Wray, R. Nemni, and W.G. Bradley Chronic progressive external ophthalmoplegia (CPEO): Clinical, morphologic, and biochemistry studies Neurology 33 1983 452 461
17. S.G. Pavlakis, P.C. Phillips, S. DiMauro, D.C. De Vivo, and L.P. Rowland Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome Ann Neurol 16 1984 481 488
18. J. Vilkki, M.L. Savontaus, and E.K. Nikoskelainen Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism Am J Hum Genet 45 1989 206 211
19. C.M. Koehler, D. Leuenberger, S. Merchant, A. Renold, T. Junne, and G. Schatz Human deafness dystonic syndrome is a mitochondrial disease Proc Natl Acad Sci USA 96 1999 2141 2146
20. J. Yaplito-Lee, R. Weintraub, K. Jamsen, C.W. Chow, D.R. Thorburn, and A. Boneh Cardiac manifestations in oxidative phosphorylation disorders of childhood J Pediatr 150 2007 407 411
21. J. Finsterer Central nervous system manifestations of mitochondrial disorders Acta Neurol Scand 114 2006 217 238
22. L.V.T. Rose, N.T. Rose, J.E. Elder, D.R. Thorburn, and A. Boneh Ophthalmologic presentation of oxidative phosphorylation diseases of childhood Pediatr Neurol 38 2008 395 397
23. K. Murayama, H. Nagasaka, and T. Tsuruoka Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency Eur J Pediatr 168 2009 297 302
24. D. Holmgren, H. Wahlander, B.O. Eriksson, A. Oldfors, E. Holme, and M. Tulinius Cardiomyopathy in children with mitochondrial disease: Clinical course and cardiological findings Eur Heart J 24 2003 280 288
25. N. Fischel-Ghodsian Mitochondrial deafness Ear Hear 24 2003 303 313
26. M. Mancuso, M. Filosto, and A. Choub Mitochondrial DNA-related disorders Biosci Rep 27 2007 31 37
27. F.G. Debray, M. Lambert, and G.A. Mitchell Disorders of mitochondrial function Curr Opin Pediatr 20 2008 471 482