A 16-year-old boy with brownish pigmentation of the skin, bilateral pingueculae, macular degeneration, hepatosplenomegaly, suggested mental retardation, and abnormal histiocytes in the bone marrow and liver is presented. The morphologic appearance of the histiocytes is unique and specific, and so far only six similar cases have been reported in the literature. The contents of these histiocytes are thought to be phospholipids and glycolipids of sphingomyelin and cerebroside variety, respectively. The significance of the clinical and laboratory findings of these cases and the possible relationship to the lipid storage disorders are discussed.

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