Hematologic involvement in mitochondrial cytopathies in childhood: A retrospective study of bone marrow smears

Pediatric Research

Volumn 46, Issue 2, 1999, Pages 158-162

  Bader Meunier, Brigitte ^a   Miélot, Françoise ^a   Breton Gorius, Jeanine ^b   Cramer, Elisabeth ^b   Guichard, Josette ^b   Landrieu, Pierre ^a   Dommergues, Jean Paul ^a   Tchernia, Gil ^a  

^a BICÊTRE HOSPITAL   (France)

^b HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BONE MARROW BIOPSY; CELL ULTRASTRUCTURE; CELL VACUOLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ERYTHROBLAST; FEMALE; HEMATOLOGIC DISEASE; HUMAN; HUMAN CELL; INFANT; MALE; NEWBORN; PRIORITY JOURNAL; REFRACTORY ANEMIA; SIDEROBLASTIC ANEMIA;

EID: 0344564195     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199908000-00005     Document Type: Article

References (23)

1. Wallace DC 1989 Mitochondrial DNA mutations and neuromuscular diseases. Hum Genet Dis 5:9-13
2. Pearson HA, Lobel JS, Kocoshis SA, Naiman LL, Windmiller J, Lammi AT 1979 A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 95:976-984
3. Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fisher A, Saudubray JM, Munnich A 1990 Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 86:1601-1608
4. Nelson I, Bonne G, Degoul F, Marsac C, Ponsot G, Lestienne P 1992 Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations. Neuropediatrics 23:199-205
5. Borgna-Pignatti C, Marradi P, Pinelli L, Monetti N, Patrini C 1989 Thiamine-responsive anemia in DIDMOAD syndrome. J Pediatr 114:405-410
6. Yamadori I, Kurose A, Kobayashi S, Ohmori M, Imai T 1992 Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study. Acta Neuropathol 84:337-341
7. Bader-Meunier B, Miélot F, Rötig A, Lavergne JM, Croisille L, Rustin P, Landrieu P, Dommergues JP, Munnich A, Tchernia G 1994 Refractory anaemia and mitochondrial cytopathy in childhood. Br J Haematol 87:381-385
8. Rustin P, Chretien D, Gérard B, Bourgeron T, Rötig A, Saudubray JM, Munnich A 1994 Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 228:35-51
9. Goasguen JE, Bennett JM 1992 Classification and morphologic features of the myelodysplastic syndromes. Semin Oncol 19:4-13
10. Miélot F, Buisine J, Duchayne E, Fenneteau O, Goasguen J, Guitard AM, Maier-Redelsperger M, Malet M, Manel AM 1998 Myelodysplastic syndromes in childhood: is the FAB classification relevant? Leuk Lymphoma 28:531-40
11. Munker R, Greither L, Darsow M, Ellwart JW, Mailhammer R, Wilmanns W 1993 Effects of tumor necrosis factor on primary human leukemia cells ultrastructural changes. Acta Haematol 90:77-83
12. Creutzig U, Cantu-Rajnoldi A, Ritter J, Romitti L, Odenwald E, Conter V 1987 Myelodysplastic syndromes in childhood. Report of 21 patients from Italy and West Germany. Am J Pediatr Hematol Oncol 9:324-330
13. Brandwein JM, Horsman DE, Eaves AC, Eaves CJ, Massing BG, Wadsworth LD, Rogers PCJ, Kalousek DK 1990 Childhood myelodysplasia: suggested classification as myelodysplastic syndromes based on laboratory and clinical findings. Am J Pediatr Hematol Oncol 12:63-70
14. Hasle H, Jacobsen BB, Pedersen NT 1995 Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions. Leukemia 9:1569-1572
15. Bader-Meunier B, Miélot F, Tchernia G, Buisine J, Delsol G, Duchayne E, Lemerle S, Leverger G, de Lumley L, Manel AM, Nathanson M, Plantaz D, Roben A, Schaison G, Sommelet D, Vilmer E 1996 Myelodysplastic syndromes in childhood: report of 49 patients from a French multicentre study. Br J Haematol 92:344-350
16. Losowsky MS, Hall R 1965 Hereditary sideroblastic anemia. Br J Haematol 11:70-85
17. Jardine PE, Cotter PD, Johnson SA, Fitzsimons EJ, Tyfield L, Lunt PW 1994 Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp 11:21 by polymorphism analysis. J Med Genet 31:213-218
18. Rötig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A 1993 Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (DIDMOAD, Wolfram syndrome). J Inher Met Dis 16:527-530
19. Cormier-Daire V, Chretien D, Rustin P, Rötig A, Dubuisson C, Jacquemin E, Hadchouel M, Bernard O, Munnich A 1997 Neonatal and delayed onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 130:817-822
20. Manyan DR, Armura GK, Yunis AA 1972 Chloramphenicol-induced erythroid suppression and bone marrow ferrochelatase in dogs. J Lab Clin Med 79:137-141
21. Hatfill SJ, Bohm L, Downing TG, Kirby R 1992 Mitochondrial DNA mutations in the myelodysplastic syndrome, [letter] Lancet 340:370
22. Gattermann N, Aul C, Schneider W 1993 Is acquired sideroblastic anemia (AISA) a disorder of mitochondrial DNA? Leukemia 7:2069-2076
23. Gattermann N, Retzlaff S, Wang YL, Berneburg M, Heinisch J, Wlaschek M, Aul C, Schneider W 1996 A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid haematopoietic cell lineages from a patient with acquired sideroblastic anaemia. Br J Haematol 93:845-855