Gaucher's disease uncovered late
Ben Said, F.; Mseddi, S.; Ben Aribia, N.; Elloumi, M.; Ben Jemaa, M.; Ben Amar, M.; Boudawara, T.; Kallel, C.; Makni, F.; Souissi, T.
La Tunisie Medicale 82(5): 453-456
2004
ISSN/ISBN: 0041-4131 PMID: 15453048 Document Number: 582929
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.