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February 1932

GAUCHER'S DISEASEA CLINICAL STUDY, WITH SPECIAL REFERENCE TO THE ROENTGENOGRAPHY OF BONES

Author Affiliations

LOS ANGELES; CHICAGO
From the Pediatric Service of the Los Angeles General Hospital, the Children's Hospital, Los Angeles, and the Department of Pediatrics, the University of Chicago.

Am J Dis Child. 1932;43(2):365-386. doi:10.1001/archpedi.1932.01950020097011
Abstract

In spite of the comparative rarity of the condition, Gaucher's disease has of late aroused a considerable amount of interest, chiefly because of a rather unique pathologic process in the bone. From the present state of knowledge concerning its pathogenesis and evolution, we may define the condition as a familial, chronic, constitutional, nonhereditary disease of metabolism, which is characterized by the deposition of cerebroside kerasin in certain cells of the reticulo-endothelial system. Clinically, it shows splenohepatomegaly, without ascites, occasional lymphadenopathy, subicteric pigmentation of the exposed parts of the skin, pinguecula-like thickening of the ocular conjunctiva, hemorrhagic diathesis, unique changes in the bones, a hypochromic type of anemia, slight but early leukopenia, frequent thrombocytopenia and spastic irritative contractions and tremors of a central type. The disease is considered rare, although the increasing knowledge of the condition is causing more frequent recognition of it in recent years. A comprehensive tabulation of all

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