Summary
A female child of non-consanguineous, healthy German parents fell ill at the age of 7 months with a progressive liver disease leading to irreversible hepatic failure 3 months later. Histological examination revealed severe liver cell necrosis, excessive Mallory body formation and veno-occlusive-like changes associated with massive storage of copper, similar to Indian childhood cirrhosis (ICC). Chronic copper contamination of drinking water was the only detectable aetiological factor. The study illustrates that ICC most probably is an environmental disease, also occurring outside the Indian subcontinent, and is likely to be underdiagnosed in the Western world.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bhandari B, Sharda B (1982) Copper from cooking utensils as a cause of Indian childhood cirrhosis? Arch Dis Child 57:323
Bhandari B, Mehta R, Sharda B (1981) Hepatic and serum copper in ICC. Ind Pediatr 18:661–663
Bhave SA, Pandit AN, Pradhan AM, Sidhaye DG, Kantarjian A, Williams A, Talbot IC, Tanner MS (1982) Liver disease in India. Arch Dis Child 57:922–928
Blisard KS, Bartow SA (1986) Neonatal hemochromatosis. Hum Pathol 17:376–383
Bloomer LC, Lee GR (1978) Normal hepatic copper metabolism. In: Powell LW (ed) Metals and the Liver. New York Marcel Dekker, 179–239
Brückmann G, Zondek SG (1939) Iron, copper and manganese in human organs at various ages. Biochemistry 33:1845–1857
Danks DM (1983) Hereditary disorders of copper metabolism in Wilson's disease and Menkes' disease. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease. New York, Mc Graw-Hill, pp 1251–1268
Emery JL, Hilton DJ (1961) The iron and copper concentrations of the liver in intrauterine life and in haemolytic disease. Acta Paediatr Scand 50:233–239
Epstein O, Sherlock S (1981) Is Wilson's disease caused by a controller gene mutation resulting in perpetuation of the fetal mode of copper metabolism in childhood? Lancet 1:303–305
Epstein O (1983) Liver copper in health and disease. Postgrad Med J 59 (Suppl 4) 88–94
Evans GW (1973) Copper homeostasis in the mammalian system. Physiol Rev 53:535–570
Goldfischer S, Bernstein J (1969) Lipofuscin (aging) pigment granules of the newborn human liver. J Cell Biol 42:253–261
Goldfischer S, Popper H, Sternlieb I (1980) The significance of variations in the distribution of copper in liver disease. Am J Pathol 99:715–730
Goldfischer S, Grotsky JW, Chang CH, Berman EL, Richert RR, Karmarkar SD, Roskamp JO, Morecki R (1981) Idiopathic neonatal iron storage involving the liver, pancreas, heart, and endocrine and exocrine glands. Hepatology 1:58–64
Hardwick DF, Dimmick JE (1976) Metabolic cirrhosis of infancy and early childhood. Perspect Pediatr Pathol 3:103
Ishak KG, Sharp HL (1979) Developmental abnormalities and liver disease in childhood. In: MacSween RNM, Anthony PP, Scheuer PJ (eds) Pathology of the Liver. Edinburgh, Churchill and Winston, pp 68–87
Ishak KG, Sharp HL (1979) Metabolic errors and liver disease. In: MacSween RNM, Anthony PP, Scheuer PJ (eds) Pathology of the Liver. Edinburgh, Churchill and Winston, pp 88–147
Jain S, Scheuer PJ, Archer B, Newman SP, Sherlock S (1978) Histological demonstration of copper and copper associated protein in chronic liver diseases. J Clin Pathol 31:784–790
Klass HJ, Kelly JK, Warnes TW (1980) Indian childhood cirrhosis in the United Kingdom. Gut 21:344–350
Lefkowitch JH, Honig CL, King ME, Hagstrom JWC (1982) Hepatic copper overload and features of Indian childhood cirrhosis in an American sibship. N Engl J Med 307:271–277
Marwaha N, Nayak NC, Roy S, Kalra V, Ghai OP (1981) The role of excess hepatic copper in the evolution of Indian childhood cirrhosis. Ind J Med Res 73:395–403
Mehrotra R, Pandey RK, Nath P (1981) Hepatic copper in Indian childhood cirrhosis. Histophatology 5:659–665
Mowat AP (1979) Liver disorders in childhood. Butterworths, London
Müller-Höcker J, Pongratz D, Deufel Th, Trijbels JMF, Endres W, Hübner G (1983) Fatal lipid storage myopathy with deficiency of cytochrome c oxidase and carnitine. Virchows Arch (Pathol Anat) 399:11–23
Müller-Höcker J, Walther JU, Bise K, Pongratz D, Hübner G (1984) Mitochondrial myopathy with loosely coupled oxidative phosphorylation in a case of Zellweger syndrome. Virchows Arch (Cell Pathol) 45:125–138
Nakanuma Y, Karino T, Ohta G (1979) Orcein positive granules in the hepatocytes in chronic intrahepatic cholestasis. Virchows Arch (Pathol Anat) 382:21–30
Nayak NC (1979) Indian childhood cirrhosis. In: MacSween RNM, Anthony PP, Scheuer PJ (eds) Pathology of the liver. New York, Churchill Livingstone, pp 268–269
Nayak NC, Ramalingaswami V (1975) Indian childhood cirrhosis. Clin Gastroenterol 4:333–349
Popper H, Goldfischer S, Sternlieb I, Nayak NC, Madhavan TV (1979) Cytoplasmic copper and its toxic effects: studies in Indian childhood cirrhosis. Lancet 1:1205–1208
Portmann B, Tanner MS, Mowat AP, Williams R (1978) Orcein positive liver deposits in Indian childhood cirrhosis. Lancet 1:1338–1340
Portmann B, Walker-Smith JA, Tanner MS (1980) Wilson' disease, chronic copper poisoning, or Indian childhood cirrhosis? Arch Dis Child 55:163–164
Reed GB, Butt EM, Landing BH (1972) Copper in childhood liver disease. A histologic, histochemical and chemical survey. Arch Pathol 93:249–255
Schramel P, Klose BJ, Hasse S (1982) Die Leistungsfähigkeit der ICP-Emissionsspektroskopie zur Bestimmung von Spurenelementen in biologisch-medizinischen und Umweltproben. Fresenius Z Anal Chem 310:209–216
Sharda B, Bhandari B (1980) Feeding practices in ICC. Curr Med Pract 24:469–471
Shenker S, Dawber NH, Schmid R (1964) Bilirubin metabolism in the fetus. J Clin Invest 43:32–39
Sternlieb I, Scheinberg H (1979a) Wilson's disease. In: Wright R, Alberti KGM, Karran S, Millward-Sadler GH (eds) Liver and biliary disease; pathophysiology, diagnosis, management. London: WB Saunders 774–804
Sternlieb I, Scheinberg H (1979b) The role of radiocopper in the diagnosis of Wilson's disease. Gastroenterol 77:138–142
Sternlieb I (1980) Copper and the liver. Gastroenterology 78:1615–1628
Stromeyer FW, Ishak KG (1980) Histology of the liver in Wilson's disease: a study of 34 cases. Am J Clin Pathol 73:12–24
Sumithran E, Looi LM (1985) Copper binding protein in liver cells. Hum Pathol 16:677–682
Tanner MS, Portmann B, Mowat AP, Williams R (1978) Indian childhood cirrhosis presenting in Britain with orcein positive deposits in liver and kidney. Br Med J :928–929
Tanner MS, Portmann B, Mowat AP, Williams R, Pandit AN, Mills CF, Bremner I (1979) Increased hepatic copper concentration in Indian childhood cirrhosis. Lancet 1:1203–1205
Tanner MS, Portmann B (1981) Indian childhood cirrhosis. Arch Dis Child 56:4–6
Tanner MS, Kantarjian AH, Bhave SA, Pandit AN (1983) Early introduction of copper-contaminated animal milk feeds as a possible cause of Indian childhood cirrhosis. Lancet 2:992–995
Thaler MM (1964) Fatal neonatal cirrhosis: entity or end result? A comparative study of 24 cases. Pediatrics 33:721–734
Walker-Smith JA, Blomfield J (1973) Wilson's disease or chronic copper poisoning? Arch Dis Child 49:476–479
Walshe JM (1984) Copper: its role in the pathogenesis of liver disease. Sem in Liver Dis 4:252–263
Winge DR (1984) Normal physiology of copper metabolism. Sem. in Liver Dis 4:239–251
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Müller-Höcker, J., Weiß, M., Meyer, U. et al. Fatal copper storage disease of the liver in a German infant resembling Indian childhood cirrhosis. Vichows Archiv A Pathol Anat 411, 379–385 (1987). https://doi.org/10.1007/BF00713384
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00713384