RICHARD I. CRONE; JAMES J. BERGIN
Gaucher's disease is a rare familial disorder characterized by a disturbance of cerebroside metabolism with abnormal storage or retention of kerasin in the cells of the reticuloendothelial system. The classic clinical findings are splenomegaly, pingueculae, symmetric pigmentation, moderate anemia with leukopenia, "Erlenmeyer flask" deformity of the distal humerus, and a good state of physical preservation. The diagnosis is established by finding Gaucher's cells in the bone marrow aspirate. The entity was first described in 1882 by Gaucher,1 who considered it a primary epithelioma of the spleen. By 1955, 280 cases had been reported in the literature.2 Since Gaucher's original description
CRONE RI, BERGIN JJ. GAUCHER'S DISEASE IN IDENTICAL TWINS1. Ann Intern Med. 1958;49:941–954. doi: 10.7326/0003-4819-49-4-941
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Published: Ann Intern Med. 1958;49(4):941-954.
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