GAUCHER'S DISEASE IN IDENTICAL TWINS
Authors: Richard I. Crone, James J. Bergin
Journal: Annals of Internal Medicine (1958)

Case Reports1 October 1958GAUCHER'S DISEASE IN IDENTICAL TWINSRICHARD I. CRONE, JAMES J. BERGINRICHARD I. CRONESearch for more papers by this author, JAMES J. BERGINSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-49-4-941 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptGaucher'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. 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To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: *Received for publication February 15, 1957.From Letterman Army Hospital, San Francisco, California.Requests for reprints should be addressed to James J. Bergin, Captain (MC) USA, Letterman Army Hospital, San Francisco, California. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byGenetic Screening for Low-Penetrance Variants in Protein-Coding GenesSpeicherkrankheitenThe Genetic Mechanism of Gaucher's Disease,Gaucher's Disease 1 October 1958Volume 49, Issue 4Page: 941-954KeywordsAnemiaCarcinomaCellsGeneticsHumerusMonozygotic twinsPalliative carePregnancySpleenSplenomegaly ePublished: 1 December 2008 Issue Published: 1 October 1958 PDF downloadLoading ...