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ROBERT R. CHILCOTE, MD; MICHAEL MILLER, MD; GLYN DAWSON, PHD; REUBEN MATALON, MD

Am J Dis Child. 1981;135(1):76-77.

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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 . . . [Full Text PDF of this Article]

Author Affiliations
Wyler Children's Hospital Box 97 950 E 59th St Chicago, IL 60637

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