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NEUROLOGY 1992;42:1768
© 1992 American Academy of Neurology

Clinical, pathologic, and biochemical features of a cholesterol lipidosis accompanied by hyperlipidemia and xanthomas

M. R. Filling-Katz, MD, S.P.F. Miller, PhD, H. F. Merrick, MD, PhD, W. D. Travis, MD, R. E. Gregg, MD, M. Tsokos, MD, M. Comly, BS, C. R. Kaneski, BS, S. Mackie, MD, R. S. Lebovics, MD, FACS, E. J. Blanchette-Mackie, PhD, R. O. Brady, MD and P. G. Pentchev, PhD

Laboratory of Clinical Studies, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD (Dr. Filling-Katz)
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (Drs. Miller, Merrick, Mackie, Brady, and Pentchev, and M. Comly and C.R. Kaneski)
Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD (Drs. Travis and Tsokos)
Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (Dr. Gregg)
National Institute on Deafness and other Communication Disorders, National Institutes of Health, Bethesda, MD (Dr. Lebovics)
Laboratory of Cellular and Developmental Biology, National Institute of Diabetes and Digestive and Kidney Disorders, National Institutes of Health, Bethesda, MD (Dr. Blanchette-Mackie).

We describe the unique clinical and histopathologic features of a child with biochemical and immunocytochemical features of Niemann-Pick disease type C (NPC). Clinically, she was found to have multiple xanthomas of the upper aerodigestive tract with dysphagia and expressive language delay, splenomegaly, bony infarcts, and type IIb hyperlipidemia. Neurologic examination was otherwise normal. Microscopy revealed foam cells in her bone marrow, liver, tongue, tonsils, glottis, and in normal-appearing peritonsillar mucosa. Lipid analysis of a liver biopsy specimen showed a small increase in phospholipids, a twofold increase in sphingomyelin, a fivefold increase in cholesterol, and a marked (25-fold) increase in bis(monoacylglycerol) phosphate. Lysosomal acid hydrolase activities in cultured skin fibroblasts were nondiagnostic. Biochemical and immunocytochemical studies of cultured fibroblasts demonstrated lysosomal accumulation of unesterified LDL-derived cholesterol as well as delayed induction of homeostatic responses to endogenous cholesterol consistent with a diagnosis of NPC. Based upon these observations, we speculate that this patient could have a new phenotypic expression of NPC or represents a new cholesterol lipidosis biochemically resembling NPC. The chance occurrence of two separate lipid disorders seems less likely.

Address correspondence and reprint requests to Dr. S.P.F. Miller, Bld. 10 Room 3D-11, NIH, Bethesda, MD 20892.

The coauthors would like to dedicate this publication to the memory of Michele R. Filling-Katz.

Received June 25, 1991. Accepted for publication in final form February 11, 1992.






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