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Case Reports
. 2008 Sep;2(3):474-8.
doi: 10.1159/000178329. Epub 2008 Nov 29.

Splenomegaly as a primary manifestation of Gaucher disease in a young adult woman

Affiliations
Case Reports

Splenomegaly as a primary manifestation of Gaucher disease in a young adult woman

Giuseppe Merra et al. Case Rep Gastroenterol. 2008 Sep.

Abstract

Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity of acid β-glucosidase, which results in the accumulation of lipid glucocerebroside in macrophages throughout the body. In this case report we describe the case of a young adult woman with splenomegaly as the primary manifestation of this pathology. This is a case of type 1 Gaucher disease because there is a lack of primary neurological involvement but we have, instead, an age-independent involvement of the visceral organs. It is very important to classify or characterize these patients in a precise manner and to make a complete diagnosis with the help of the many diagnostic resources now at our disposal, especially with genetics, radiology and new techniques of advanced microscopy, also because Gaucher disease requires a long and complex management from early life to adulthood.

Keywords: Accumulation; Gaucher disease; Lysosomal storage disease; Macrophages; Splenomegaly.

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