Studies on a Case of Lipogranulomatosis (Farber’s Disease) with Protracted Course

  • K. Samuelsson
  • R. Zetterström
  • B. I. Ivemark
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)


The first description of lipogranulomatosis was published by Farber in 1952 (8). On the basis of the findings in three children, two of whom were siblings he described the clinical and pathological features of this rare systemic disorder. At present eight additional cases, including the present one have been reported (1,3,4,6,7,17, 25). It has been suggested that the disease is inherited in an autosomal recessive manner (7).


Subcutaneous Nodule Normal Fatty Acid Lignoceric Acid Nervonic Acid Ceramidase Activity 
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  1. 1.
    Abul-Haj, S.K., Martz, D.G., Douglas, W.F. and Geppert, L.J. Farber’s disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. J. Pediat. 61: 221 (1962).PubMedCrossRefGoogle Scholar
  2. 2.
    Adams, C.W.M. Neurohistochemistry. Elsevier Publishing Co., Amsterdam, 1965.Google Scholar
  3. 3.
    Azanza, X. Une Nouvelle Neurolipidose. La Maladie de Farber (Thesis). Editions Bergerel, Bordeaux, 1969.Google Scholar
  4. 4.
    Bierman, S.M., Edgington, T., Newcomer, V.D. and Pearson, C.M. Farber’s disease: A disorder of mucopolysaccharide metabolism with articular respiratory and neurologic manifestations. Arthr. and Rheum. 9: 620 (1966).CrossRefGoogle Scholar
  5. 5.
    Brady, R.O. Cerebral lipidoses. Amer. Rev. Med. 21: 317 (1970).CrossRefGoogle Scholar
  6. 6.
    Clausen, J. and Rampini, S. Chemical studies of Farber’s disease. Acta neurol. scand. 46: 313 (1970).PubMedCrossRefGoogle Scholar
  7. 7.
    Crocker, A.C., Cohen, J. and Farber, S. The “lipogranulomatosis” syndrome; Review, with report of patient showing milder involvement. In: Aronson, S.M. and Volk, B.W. (eds) Inborn Disorders of Sphingolipid Metabolism. Pergamon Press Ltd., Oxford, 1967, pp. 485–503.Google Scholar
  8. 8.
    Farber, S. A lipid metabolic disorder-disseminated “Lipogranulomatosis” - a syndrome with similarity to and important difference from, Niemann-Pick and Hand-Schuller-Christian disease. Amer. J. Dis. Child. 84: 499 (1952).Google Scholar
  9. 9.
    Farber, S., Cohen, J. and Uzman, L.L. Lipogranulomatosis. A new lipo-glyco-protein “storage” disease. J. Mt Sinai Hosp. 24: 816 (1957).Google Scholar
  10. 10.
    Gatt, S. Enzymatic aspects of sphingolipid degradation. In: Sweeley, C.C. (ed) Chemistry and Metabolism of Sphingolipids. North Holland Publishing Co., Amsterdam, 1970, pp. 235–249.Google Scholar
  11. 11.
    Hammarström, S. Gas-liquid chromatography-mass spectrometry of synthetic ceramides containing phytosphingosine. J. Lipid Res. 11: 175 (1970).Google Scholar
  12. 12.
    Hammarström, S., Samuelsson, B. and Samuelsson, K. Gas-liquid chromatography-mass spectrometry of synthetic ceramides containing 2-hydroxy acids. J. Lipid Res. 11: 150 (1970).PubMedGoogle Scholar
  13. 13.
    Ivemark, B.I. Lipid histochemical findings in juvenile lipogranulomatosis (Farber). Proceedings of the 5th annual meeting of the Scandinavian Society of Pediatric Pathology in Helsinki, June 10–12, 1971. Acta paediat. scand. In press.Google Scholar
  14. 14.
    Lauter, C.J. and Trams, E.G. A spectrophotometric determination of sphingosine. J. Lipid Res. 3: 136 (1962).Google Scholar
  15. 15.
    Morell, P., Costantino-Ceccarini, E., and Radin, N.S. The biosynthesis by brain microsomes of cerebrosides containing nonhydroxy fatty acids. Arch. Biochem. 141: 738 (1970). And references therein.Google Scholar
  16. 16.
    Moser, H.W., Prensky, A.L., Wolfe, H.J. and Rosman, N.P. Farber’s lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside. Amer. J. Med. 47: 869 (1969).CrossRefGoogle Scholar
  17. 17.
    Prensky, A.L., Ferreira, G., Carr, S. and Moser, H.W. Ceramide and ganglioside accumulation in Farber’s lipogranulomatosis. Proc. Soc. exp. Biol. (N.Y.) 126: 725 (1967).Google Scholar
  18. 18.
    Samuelsson, B. and Samuelsson, K. Gas-liquid chromatographic separation of ceramides as di-0-trimethylsilyl ether derivatives. Biochim. biophys. Acta (Amst.) 164: 421 (1968).CrossRefGoogle Scholar
  19. 19.
    Samuelsson, B. and Samuelsson, K. Gas-liquid chromatography-mass spectrometry of synthetic ceramides. J. Lipid Res. 10: 41 (1969).PubMedGoogle Scholar
  20. 20.
    Samuelsson, K. Identification and quantitative determination of ceramides in human plasma. Scand. J. clin. Lab. Invest. 27: 371 (1971).CrossRefGoogle Scholar
  21. 21.
    Samuelsson, K. and Zetterström, R. Ceramides in a patient with lipogranulomatosis (Farber’s disease) with chronic course. Scand. J. clin. Lab. Invest. 27: 393 (1971).CrossRefGoogle Scholar
  22. 22.
    Sribney, M. Enzymatic synthesis of ceramide. Biochim. biophys. Acta (Amst.) 125: 542 (1966).CrossRefGoogle Scholar
  23. 23.
    Sribney, M. and Kennedy, E.P. The enzymatic synthesis of sphingomyelin. J. Biol. Chem. 233: 1315 (1958).PubMedGoogle Scholar
  24. 24.
    Stoffel, W. Studies on the biosynthesis and degradation of sphingosine bases. In: Sweeley, C.C. (ed) Chemistry and Metabolism of sphingolipids. North Holland Publishing Co., Amsterdam, 1970, pp. 139–158.Google Scholar
  25. 25.
    Zetterström, R. Disseminated lipogranulomatosis (Farber’s disease). Acta paediat. (Uppsala) 47: 501 (1958).CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • K. Samuelsson
    • 1
  • R. Zetterström
    • 1
  • B. I. Ivemark
    • 1
  1. 1.Departments of Neurology and Pediatric Pathology, Karolinska sjukhuset and of Pediatrics, S:t Görans sjukhus, Karolinska Instituet and the Department of Medical ChemistryRoyal Veterinary CollegeStockholmSweden

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