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Sloan HR Fredrickson DS (1972)
The Metabolic Basis of Inherited Disease
J. Kampine, Roscoe Bardy, J. Kanfer, M. Feld, D. Shapiro (1967)
Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous BloodScience, 155
Abstract Niemann-Pick disease is characterized by hepatosplenomegaly and progressive neurologic deterioration in the first year of life. Histiocytes of the reticuloendothelial system accumulate cytoplasmic inclusions, which results in characteristic "foam cells."1 In the examination of a patient with hepatosplenomegaly, discovery of these cells in bone marrow aspirates provides a valuable diagnostic clue. These cells, however, are few in number and may be difficult to recognize in standard preparations. We describe a case of Niemann-Pick disease in which foam cells were present in the spinal fluid and were easily demonstrated by cytocentrifugation. Evaluation of CSF cells by cytocentrifugation may provide a useful diagnostic tool in suspected cases of lipid storage disease. Report of a Case.—The patient was noted to have massive hepatosplenomegaly at 7 months of age. The boy's parents were first cousins. Physical examination showed a small, microcephalic infant. His height (25 cm), weight (6,130 g), and head circumference References 1. Fredrickson DS, Sloan HR: Sphingomyelin lipidoses: Niemann-Pick disease , in Stanbury JB, Wyngaarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease , ed 3. New York, McGraw-Hill Book Co, 1972, pp 790-791. 2. Kampine JP, Brady RO, Kanfer JN, et al: Diagnosis of Gaucher's disease and Niemann-Pick disease with small samples of venous blood . Science 1967;155:86.Crossref
American Journal of Diseases of Children – American Medical Association
Published: Jan 1, 1981
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