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  • Title: [Nieman-Pick disease revealed by a pulmonary miliary tuberculosis (author's transl)].
    Author: Kofman J, Chevalier JP, Baraton G, Brun J.
    Journal: Poumon Coeur; 1979; 35(4):217-22. PubMed ID: 504050.
    Abstract:
    A diagnosis of Niemann-Pick disease was made in a 26 years old man with chronic pulmonary miliary tuberculosis and splenomegaly. It was confirmed by the drop of sphingomyelinase level in leucocytes and fibroblasts of the skin. The authors showed the presence of foamy cells with sphingomyelin in the spleen and bone marrow. They underlined the value of dosing sphingomyelinase in leucocytes for diagnosis purposes. They also observed blue histocytes in the spleen and bone marrow, next to the foamy cells which are not specific of Niemann-Pick disease and can be found in numerous other affections. This pure visceral form with delayed development without neurological involvement, corresponds to the phenotype B of Crocker.
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