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February 1949

ESSENTIAL XANTHOMATOSIS: Fifteen Years' Observation on a Case Occurring in a Family with Hypercholesteremia

Author Affiliations

From the Children's Department, Mount Sinai Hospital, and the Department of Biochemistry, New York State Psychiatric Institute.

Am J Dis Child. 1949;77(2):164-174. doi:10.1001/archpedi.1949.02030040173002

IN 1936 we1 recorded the results of a year's study (April 1934 to May 1935) on H. R., a boy who when first seen by one of us (B. S.) in 1932 was 9 years of age, and who, when admitted in April 1934 to the pediatric service of Mount Sinai Hospital, New York, presented a picture of severe xanthoma tuberosum with pronounced hypercholesteremia. The present report describes the subsequent course of the disease and provides further observations on the patient and his family. We wish to stress particularly two features which we believe unique: (1) The patient lived thirteen years on a diet virtually free of cholesterol with little, if any, change in his condition, and (2) the father, mother and 1 brother were hypercholesteremic, with no evidence of xanthomatosis. The heredofamilial considerations raised by the latter observation are discussed in considerable detail.


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