A rare, inborn metabolic disorder (lipidosis) in which infants develop hepatosplenomegaly, calcification of the adrenal glands, and foam cells in the bone marrow and other tissues. Inclusion bodies of lipid droplets can be seen in the circulating white cells. After a few weeks when the child is mentally bright and alert it manifests in the first few weeks of life with failure to thrive, diarrhoea, vomiting. Positive Babinski's reflex. Death in first months of life. Both sexes affected. Inheritance is autosomal recessive.
Abramov, Schorr and Wolman in 1956 first described the disease in a child born to closely related Persian Jews.
- W. S. Alexander:
Niemann Pick disease. Report of a case showing calcification of the adrenal glands.
The New Zealand Medical Journal, Wellington, 1946, 45: 43-45.
- A. Abramov, S. Schorr, M. Wolman:
Generalized xanthomatosis with calcified adrenals.
American Journal of Diseases of Children, Chicago, 1956; 91: 282-286.
- M. Wolman, V. V. Sterk, S. Gatt, M. Frenkel:
Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant.
Pediatrics, Evanston, Illinois, 1961, 28: 742-757.