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Deficiency of an Acid Lipase in Wolman's Disease

Naturevolume 222pages10671068 (1969) | Download Citation

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Abstract

PRIMARY familial xanthomatosis with involvement and calcification of the adrenals, affecting three siblings in early infancy, was first described by Abramov, Schorr and Wolman1,2 and further reports have appeared3,4. Failure to thrive, severe malabsorption and hepatosplenomegaly are early manifestations of the disease. Histochemical examination of visceral organs reveals extensive deposition of neutral fat and cholesterol, and the widespread occurrence of foamy lipid-laden cells, while analysis of liver and spleen shows the stored lipids to be chiefly triglycerides and cholesteryl esters.

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References

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    Abramov, A., Schorr, S., and Wolman, M., Amer. J. Dis. Child., 91, 282 (1956).

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Affiliations

  1. Department of Chemical Pathology

    • A. D. PATRICK
  2. Department of Morbid Anatomy, Institute of Child Health, Guilford Street, London, WC1.

    • B. D. LAKE

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https://doi.org/10.1038/2221067a0

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