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The results of studies made on an adult patient with hepatosplenomegaly, hyperlipidemia and accumulation of acidic phospholipids in the liver are presented. Storage of a lipoid substance was demonstrated histologically in lymph nodes, the liver and the bone marrow. Lipid analysis of the biopsy specimen from the liver revealed marked elevations of free cholesterol and two classes of acidic phospholipids: phosphatidyl inositol and another one which was tentatively identified as lysobisphosphatidic acid. Electron microscopic examination showed cytoplasmic inclusions with concentrically laminated structure.
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Yamamoto et al. (1970) studied this question.
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