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January 1981

Foamy Histiocytes in the CSF of a Patient With Infantile Niemann-Pick Disease

Author Affiliations

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

Am J Dis Child. 1981;135(1):76-77. doi:10.1001/archpedi.1981.02130250062018

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