AI Article Synopsis
- Gaucher's disease is a rare inherited condition caused by low levels of the enzyme beta glucocerebrosidase, leading to health issues like bone pain and enlarged spleen.
- Symptoms typically appear in younger patients, but misdiagnosis can occur, especially if the spleen isn't visibly enlarged.
- This report discusses two older patients, 70 and 46 years old, who were unexpectedly diagnosed with Gaucher's disease during a bone marrow examination while being checked for low blood cell counts.
Article Abstract
Gaucher's disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta glucocerebrosidase. This disease is usually diagnosed in the first or second decade of life with the arising of bone pains, splenomegaly and hemorragic manifestations due to thrombocytopenia. When the enlarged spleen is not evident, or after splenectomy, patients may be mis-identified as having Gaucher's disease. We present here two cases of elderly patients aged 70 and 46 years respectively, in whom the disease was a surprising finding of bone marrow examination, during check up for pancytopenia.
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