Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome

Journal of Hepatology

Volumn 31, Issue 3, 1999, Pages 550-555

  Krähenbühl, Stephan ^a   Kleinle, Stephanie ^a   Henz, Samuel ^a   Leibundgut, Kurt ^a   Liechti, Sabina ^a   Zimmermann, Arthur ^a   Wiesmann, Ulrich ^a  

^a UNIVERSITY OF BERN   (Switzerland)

Author keywords

Iron metabolism; Liver cirrhosis; Microvesicular steatosis; Mitochondrial cytopathies

Indexed keywords

ARTICLE; AUTOPSY; BONE MARROW EXAMINATION; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; GENE DELETION; GENE MAPPING; HEMOSIDEROSIS; HISTOPATHOLOGY; HUMAN; INFANT; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FAILURE; MALE; PEARSON SYNDROME; PRIORITY JOURNAL; STEATOSIS;

EID: 0033199970     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(99)80050-6     Document Type: Article

References (45)

1. Shoffner JM. Maternal inheritance and the evaluation of oxidative phosphorylation diseases. Lancet. 348:1996;1283-1288.
2. Boustany RN, Aprille JR, Halperin J, Levy H, De LG. Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. Ann Neurol. 14:1983;462-470.
3. Cormier V, Rustin P, Bonnefont JP, Rambaud C, Vassault A, Rabier D, et al. Hepatic failure in disorders of oxidative phosphorylation with neonatal onset. J Pediatr. 119:1991;951-954.
4. Vilaseca MA, Briones P, Ribes A, Carreras E, Llacer A, Querol J. Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase. J Inherit Metab Dis. 14:1991;285-288.
5. Parrot-Roulaud F, Carre M, Lamirau T, Letellier T, Malgat M, Mazat JP, et al. Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain. J Inherit Metab Dis. 14:1991;289-292.
6. Fayon M, Lamireau T, Bioulac-Sage P, Letellier T, Moretto B, Parrot-Roulaud F, et al. Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites. Gastroenterology. 103:1992;1332-1335.
7. Edery P, Gerard B, Chretien D, Rotig A, Cerrone R, Rabier D, et al. Liver cytochrome c oxidase deficiency in a case of neonatalonset hepatic failure. Eur J Pediatr. 153:1994;190-194.
8. Bioulac-Sage P, Parrot-Roulaud F, Mazat JP, Lamireau T, Coquet M, Sandler B, et al. Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. Hepatology. 18:1993;839-846.
9. Goncalves I, Hermans D, Chretien D, Rustin P, Munnich A, Saudubray JM, et al. Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency. J Hepatol. 23:1995;290-294.
10. Morris AA, Taanman JW, Blake J, Cooper JM, Lake BD, Malone M, et al. Liver failure associated with mitochondrial DNA depletion. J Hepatol. 28:1998;556-563.
11. Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. 95:1979;976-984.
12. Stoddard RA, McCurnin DC, Shultenover SJ, Wright JE, de LR. Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate. J Pediatr. 99:1981;259-261.
13. Rotig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest. 86:1990;1601-1608.
14. de Vries D, Buzing CJ, Ruitenbeek W, van der Wouw MP, Sperl W, Sengers RC, et al. Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome. Neuromuscul Disord. 2:1992;185-195.
15. Baerlocher KE, Feldges A, Weissert M, Simonsz HJ, Rotig A. Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome. J Inherit Metab Dis. 15:1992;327-330.
16. Kapsa R, Thompson GN, Thorburn DR, Dahl HH, Marzuki S, Byrne E, et al. A novel mtDNA deletion in an infant with Pearson syndrome. J Inherit Metab Dis. 17:1994;521-526.
17. Gurgey A, Ozalp I, Rotig A, Tekinalp G, Erdem G, Akeoren Z, et al. A case of Pearson syndrome associated with multiple renal cysts. Pediatr Nephrol. 10:1996;637-638.
18. Kleinle S, Wiesmann U, Superti-Furga A, Krahenbuhl S, Boltshauser E, Reichen J, et al. Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. Hum Genet. 100:1997;643-650.
19. Krahenbuhl S, Schafer T, Wiesmann U. Determination of the activities of the enzyme complexes of the respiratory chain in human fibroblasts. Clin Chim Acta. 253:1996;79-90.
20. Hoppel CL, Kerr DS, Dahms B, Roessmann U. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial transport. J Clin Invest. 80:1987;71-77.
21. Haller RG, Lewis SF, Estabrook RW, Di Mauro S, Servidei S, Forster DW. Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency. J Clin Invest. 84:1989;155-161.
22. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 13:1996;399-408.
23. Knisely AS. Iron and pediatric liver disease. Semin Liver Dis. 14:1994;229-235.
24. Goya N, Miyazaki S, Kodate S, Ushio B. A family of congenital atransferrinemia. Blood. 40:1972;239-245.
25. Hamill RL, Woods JC, Cook BA. Congenital atransferrinemia. A case report and review of the literature. Am J Clin Pathol. 96:1991;215-218.
26. Verloes A, Lombet J, Lambert Y, Hubert AF, Deprez M, Fridman V, et al. Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am J Med Genet. 68:1997;391-395.
27. Logan JI, Harveyson KB, Wisdom GB, Hughes AE, Archbold GP. Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. QJM. 87:1994;663-670.
28. Morita H, Ikeda S, Yamamoto K, Yoshida K, Nomoto S, Kato M, et al. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann Neurol. 37:1995;646-656.
29. Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet. 9:1995;267-272.
30. Clayton PT. Delta 4-3-oxosteroid 5 beta-reductase deficiency and neonatal hemochromatosis. J Pediatr. 125:1994;845-846.
31. Stavem P, Romslo I, Hovig T, Rootwelt K, Emblem R. Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia. Scand J Haematol. 34:1985;204-206.
32. Gilchrist KW, Gilbert EF, Goldfarb S, Goll U, Spranger JW, Opitz JM. Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology. Eur J Pediatr. 121:1976;99-118.
33. Bale PM, Kan AE, Dorney SF. Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease. Pediatr Pathol. 14:1994;479-489.
34. Fellman V, Rapola J, Pihko H, Varilo T, Raivio KO. Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet. 351:1998;490-493.
35. Barron R, Grace ND, Sherwood G, Powell LW. Iron overload complicating sideroblastic anemia - is the gene for hemochromatosis responsible? Gastroenterology. 96:1989;1204-1206.
36. Burt MJ, George PM, Upton JD, Collett JA, Frampton CMA, Chapman TM, et al. The significance of haemochromatosis gene mutations in the general population: implications for screening. Gut. 43:1998;830-836.
37. Babcock M, De SD, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science. 276:1997;1709-1712.
38. Rotig A, De LP, Chretien D, Foury F, Koenig M, Sidi D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet. 17:1997;215-217.
39. Neupert W. Protein import into mitochondria. Annu Rev Biochem. 66:1997;863-917.
40. Fromenty B, Pessayre D. Inhibition of mitochondrial beta-oxidation as a mechanism of hepatotoxicity. Pharmacol Ther. 67:1995;101-154.
41. Mahler H, Pasi A, Kramer JM, Schulte P, Scoging AC, Bar W, et al. Fulminant liver failure in association with the emetic toxin of Bacillus cereus. N Engl J Med. 336:1997;1142-1148.
42. Olaso E, Friedman SL. Molecular regulation of hepatic fibrogenesis. J Hepatol. 29:1998;836-847.
43. Ludwig J. New concepts in biliary cirrhosis. Semin Liver Dis. 7:1987;293-301.
44. Krähenbühl S, Krähenbühl-Glauser S, Stucki J, Gehr P, Reichen J. Stereological and functional analysis of liver mitochondria from rats with secondary biliary cirrhosis: impaired mitochondrial metabolism and increased mitochondrial content per hepatocyte. Hepatology. 15:1992;1167-1172.
45. Krähenbühl S, Talos C, Reichen J. Mechanisms of impaired hepatic fatty acid metabolism in rats with long-term bile duct ligation. Hepatology. 19:1994;1272-1281.