Skip to main content
Log in

Liver and chorion cytochemistry

  • Published:
Journal of Inherited Metabolic Disease

Summary

Microscopic visualization of peroxisomes in chorionic villus cytotrophoblast and in biopsy and autopsy samples of liver and kidney, the presence of enlarged liver macrophages containing lipid droplets insoluble in acetone and n-hexane as well as polarizing inclusions formed by stacks of trilamellar sheets are of diagnostic value in peroxisomal disorders. Methods are presented for evaluating these structures by light microscopy; trilamellar inclusions are only detected by electron microscopy. Macrophage features are preserved in archival paraffin blocks. In adrenal cortex, insoluble lipid, polarizing inclusions and trilamellar structures should be looked for. The stains are easily reproducible, and all reagents are commercially available.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • De Craemer D, Espeel M, Langendries M, Schutgens RBH, Hashimoto T, Roels F (1990) Postmortem visualization of peroxisomes in rat and in human liver tissue.Histochem J 22: 36–44.

    Google Scholar 

  • Dimmick JE, Applegarth DA (1993) Pathology of peroxisomal disorders. In Landing BH, Haust MD, Bernstein J, Rosenberg HS, eds.Genetic Metabolic Diseases, Perspectives in Pediatric Pathology, vol. 17. Basle: Karger, 45–98.

    Google Scholar 

  • Dingemans KP, Mooi WJ, van den Bergh Weerman MA (1983) Angulate lysosomes.Ultrastruct Pathol 5: 113–122.

    Google Scholar 

  • Espeel M, Van Limbergen G (1995) Immunocytochemical localization of peroxisomal proteins in human liver and kidney.J Inher Metab Dis 18 (Suppl. 1: 135–154.

    Google Scholar 

  • Espeel M, Roels F, De Cramer D, et al (1991) Peroxisomal localization of the immunoreactive β-oxidation enzymes in a neonate with a β-oxidation defect. Pathological observations in liver, adrenal cortex and kidney.Virchows Arch A Pathol Anat 419: 301–308.

    Google Scholar 

  • Espeel M, Heikoop JC, Smeitink JAM, et al (1993) Cytoplasmic catalase and ghost-like peroxisomes in the liver from a child with atypical rhizomelic chondrodysplasia punctata.Ultrastr Pathol 17: 623–636.

    Google Scholar 

  • Espeel M, Mandel H, Poggi F, et al (1995) Peroxisome mosaicism in the livers of peroxisomal deficiency patients.Hepatology,22: 497–504.

    Google Scholar 

  • Gatfield PD, Taller E, Hinton GG, Wallace AC, Abdelnour GM, Haust MD (1968) Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly.Can Med Assoc J 99: 1215–1233.

    Google Scholar 

  • Ghatak NR, Nochlin D, Peris M, Myer EC (1981) Morphology and distribution of cytoplasmic inclusions in adrenoleukodystrophy.J Neurol Sci 50: 391–398.

    Google Scholar 

  • Haas JE, Johnson ES, Farrell DL (1982) Neonatal-onset adrenoleukodystrophy in a girl.Ann Neurol 12: 449–457.

    Google Scholar 

  • Hughes JL, Poulos A, Robertson E, et al (1990) Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders.Virchows Arch A, Pathol Anat 416: 255–264.

    Google Scholar 

  • Johnson AB, Schaumberg HH, Powers JM (1976) Histochemical characteristics of the striated inclusions of adrenoleukodystrophy.J Histochem Cytochem 24: 725–730.

    Google Scholar 

  • Kerckaert I, Dingemans KP, Heymans HSA, Vamecq J, Roels F (1988) Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata (rhizomelic form), X-linked adrenoleukodystrophy).J Inher Metab Dis 11: 372–386.

    Google Scholar 

  • Lake BD (1992) Lysosomal and peroxisomal disorders. In Adams JH, Duchen LW, Edward Arnold, eds.Greenfield's Neuropathology, 5th edn. London: Hodder and Stoughton, 709–810.

    Google Scholar 

  • Mandel H, Espeel M, Roels F, et al (1994) A new type of peroxisomal disorder with variable expression in liver and fibroblasts.J Pediatr 125: 549–555.

    Google Scholar 

  • Manz HJ, Schuelein M, McCullough DC, Kishimoto Y, Eiben RM (1980) New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers.J Neurol Sci 45: 245–260.

    Google Scholar 

  • Mooi WJ, Dingemans KP, van den Bergh Weerman MA, Jöbsis AC, Heymans HSA, Barth PG (1983) Ultrastructure of the liver in the cerebrohepatorenal syndrome of Zellweger.Ultrastruct Pathol 5: 135–144.

    Google Scholar 

  • Novikoff AB, Goldfischer S (1969) Visualization of peroxisomes (microbodies) and mitochondria with diaminobenzidine.J Histochem Cytochem 17: 675–680.

    Google Scholar 

  • Pfeifer U, Sandhage K (1979) Licht- und elektronenmikroskopische Leberbefunde beim Cerebro-Hepato-Renalen Syndrome nach Zellweger (Peroxisomen-Defizienz).Virchows Archiv A, Pathol Anat Histol 384: 269–284.

    Google Scholar 

  • Poulos A, Pollard AC, Mitchell JD, Wise G, Mortimer G (1984) Patterns of Refsum's disease. Phytanic acid oxidase deficiency.Arch Dis Child 59: 222–229.

    Google Scholar 

  • Roels F (1974) Cytochrome and cytochrome oxidase in diaminobenzidine staining of mitochondria.J Histochem Cytochem 22: 442–446.

    Google Scholar 

  • Roels F (1991)Peroxisomes: A Personal Account. Brussels: VUB Press, 1–151. ISBN 90-70289-94-6.

    Google Scholar 

  • Roels F, Goldfischer S (1979) Cytochemistry of human catalase: the demonstration of hepatic and renal peroxisomes by a high temperature procedure.J Histochem Cytochem 27: 1471–1477.

    Google Scholar 

  • Roels F, Wisse E, De Prest B, van der Meulen J (1975) Cytochemical discrimination between catalases and peroxidases using diaminobenzidine.Histochemistry 41: 281–312.

    Google Scholar 

  • Roels F, Cornelis A, Poll-The BT, et al (1986) Hepatic peroxisomes are deficient in infantile Refsum disease: A cytochemical study of 4 cases.Am J Med Genet 25: 257–271.

    Google Scholar 

  • Roels F, Verdonck V, Pauwels M, et al (1987) Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi.Prenat Diagn 7: 525–530.

    Google Scholar 

  • Roels F, Espeel M, De Craemer D (1991a) Liver pathology and immunocytochemistry in peroxisomal disorders: A review.J Inher Metab Dis 14: 853–875.

    Google Scholar 

  • Roels F, Espeel M, Pauwels M, De Craemer D, Egberts HJA, Van der Spek P (1991b) Different types of peroxisomes in human duodenal epithelium.Gut 32: 858–865.

    Google Scholar 

  • Roels F, Espeel M, Lissens W, et al (1993a) Fast prenatal diagnosis of Zellweger cerebro-hepatorenal syndrome (ZS) by microscopy of first trimester chorionic villi (CV). Abstracts of the 31st SSIEM Annual Symposium. Sheffield: SSIEM; W27.

    Google Scholar 

  • Roels F, Espeel M, Poggi F, Mandel H, Van Maldergem L, Saudubray JM (1993b) Human liver pathology in peroxisomal diseases: a review including novel data.Biochimie 75: 281–292.

    Google Scholar 

  • Roels F, Espeel M, Mandel H, et al (1995) Cell and tissue heterogeneity in peroxisomal patients. In Wanders RJA, Schutgens RBH, Tabak HF, eds.Peroxisomal Disorders in Relation to Functions and Biogenesis of Peroxisomes. Amsterdam: Elsevier, in press.

    Google Scholar 

  • Schaumberg HH, Powers JM, Suzuki K, Raine CS (1974) Adreno-leukodystrophy (sex-linked Schilder disease). Ultrastructural demonstration of specific cytoplasmic inclusions in the central nervous system.Arch Neurol 31 210–213.

    Google Scholar 

  • Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson Jr EP (1975) Adrenoleukodystrophy. A clinical and pathological study of 17 cases.Arch Neurol 32: 577–591.

    Google Scholar 

  • Schaumburg HH, Powers JM, Raine CS, et al (1977) Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic, and biochemical aspects.Neurology 27: 1114–1119.

    Google Scholar 

  • Scotto JM, Hadchouel M, Odièvre M, et al (1982) Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases including ultrastructural studies of the liver.J Inher Metab Dis 5: 83–90.

    Google Scholar 

  • Ulrich J, Hershkowitz N, Heitz Ph, Sigrist Th, Baerlocher P (1978) Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findings.Acta Neuropathol 43: 77–83.

    Google Scholar 

  • Vamecq J, Draye J-P, Van Hoof F, et al (1986) Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy.Am J Pathol 125: 524–535.

    Google Scholar 

  • Van Hoof F, Roels F (1989) Liver ultrastructure and diagnosis of inborn metabolic disorders.Micron Microscopica Acta 20: 59–62.

    Google Scholar 

  • Van Maldergem L, Espeel M, Wanders RJA, et al (1992) Neonatal seizures and hypotonia with elevation of very long chain fatty acids, normal bile acids, normal fatty acyl-CoA oxidase and intraperoxisomal localization of the three β-oxidation enzymes: a novel peroxisomal disease?Neuromusc Disord 2: 217–224.

    Google Scholar 

  • Wolff K, Wolff-Schreiner E, Gschnait F (1975) Liver inclusions in erythropoietic protoporphyria.Eur J Clin Invest 5: 21–26.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Roels, F., De Prest, B. & De Pestel, G. Liver and chorion cytochemistry. J Inherit Metab Dis 18 (Suppl 1), 155–171 (1995). https://doi.org/10.1007/BF00711437

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00711437

Keywords

Navigation