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:: Volume 3, Number 4 (12-2013) ::
Iran J Ped Hematol Oncol 2013, 3(4): 173-175 Back to browse issues page
Gaucher’s Disease, an Unusual Cause of Massive Splenomegaly, a Case Report
F Binesh , A Yousefi, M Ordooei, MA Bagherinasab
Abstract:   (13642 Views)
Background Gaucher’s Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher’s Disease .G.D is rare in Yazd. Case reports We reported a patient that presented with weakness, pallor and gradually increasing abdominal girth. Clinical examination and history pointed to be a lipid storage disease. Final diagnosis of G.D. was reported after examining the bone marrow smears. Confirmation of diagnosis on Gaucher’s disease was performed by measurement of glucocerebrosidase level. Conclusion We report a case of G.D. to emphasize the importance of early recognition by clinical manifestation and histological findings. G.D. should be considered in the differential diagnosis of children with unexplained splenomegaly.
Keywords: Gaucher Disease; Splenomegaly; Diagnosis
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Type of Study: Research | Subject: Special
Received: 2013/12/18 | Accepted: 2013/12/18 | Published: 2013/12/18
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Binesh F, Yousefi A, Ordooei M, Bagherinasab M. Gaucher’s Disease, an Unusual Cause of Massive Splenomegaly, a Case Report. Iran J Ped Hematol Oncol. 2013; 3 (4) :173-175
URL: http://ijpho.ssu.ac.ir/article-1-146-en.html
Volume 3, Number 4 (12-2013) Back to browse issues page
Iranian Journal of Pediatric Hematology and Oncology
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