Gaucher disease discovered incidentally after splenectomy
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- Articles
- Submited: July 4, 2022
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Published: October 1, 2022
Abstract
Gaucher disease is a genetically rare overload disease caused by a deficiency in a lysosomal enzyme beta-glucocerebrosidase. However, the discovery of Gaucher disease after splenectomy is rarely described in the literature. We report a clinical, radiological and biological observation of a man with splenomegaly with compression of neighboring organs, splenectomized for diagnosis and whose pathological examination has helped to guide the diagnosis and confirm by the assay of the enzymatic activity of glucocerebrosidase. However, this unexpected diagnosis of Gaucher disease poses a diagnostic problem when the clinical-radiological context is not concordant.
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