BARRY DECKER; C. A. MCWHORTER, M.D.
Gaucher's disease is a rare hereditary1, 2, 3 error in the intracellular metabolism4, 5, 6 of cerebroside resulting in the accumulation of glucose-cerebroside or polycerebroside7 in a swollen, distinctive reticuloendothelial cell bearing the name of the disease. In adults these cells accumulate in the spleen, liver, visceral lymph nodes and bone marrow. The typical manifestations of the disease are splenomegaly, hepatomegaly, pallor, pingueculae, symmetric pigmentation, myopia, a panhemocytopenia associated with a bleeding tendency,8, 9 and painful bone changes sometimes resulting in joint deformity or pathologic fractures.10 The disease has been demonstrated, however, in cases lacking some or all of the
DECKER B, MCWHORTER CA. GAUCHER'S DISEASE AND PREGNANCY: TWO CASE REPORTS, INCLUDING OBSERVATIONS ON THE EFFECTS OF ADRENAL STEROIDS*. Ann Intern Med. 1956;44:1219–1230. doi: https://doi.org/10.7326/0003-4819-44-6-1219
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Published: Ann Intern Med. 1956;44(6):1219-1230.
Adrenal Disorders, Encephalopathy, Endocrine and Metabolism, Neurology.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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