Asplenomegalic (Cryptic) Gaucher's Disease

Arch Intern Med. 1961;107(4):583-588. doi:10.1001/archinte.1961.03620040109013.
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This rare disease, diagnosed pathologically by the presence of reticuloendothelial cells containing kerasin, radiologically by the characteristic mottled, moth-eaten appearance of bones, and clinically by the presence of splenomegaly, hepatomegaly, anemia, and leukopenia, may easily go undiagnosed in the absence of the usually markedly enlarged spleen. Less constant findings are the buck-wheat pallor of the skin, pingueculae, brownish pigmentation of the skin of the anterior tibial surfaces, petechiae due to thrombocytopenia, and bone pain due to hemorrhages and deposits in the bones as well as bony deformities. By some it has been considered untenable to make a diagnosis of Gaucher's disease in the absence of splenomegaly. Yet, such cases do exist, may masquerade as chronic anemias, may present as pallor of undetermined origin, and in the absence of splenomegaly continue undiagnosed unless the clinician is fortunate enough to perform a sternal marrow aspiration.

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