title: Splenomegaly as a primary manifestation of Gaucher disease in a young adult woman.
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.
authors: Department of Internal Medicine, Catholic University of Sacred Heart, Rome, Italy.
authors: Giuseppe
authors: G
authors: Merra
authors: Antonio Dal
authors: AD
authors: Lago
authors: Roberta
authors: R
authors: Ricci
authors: Daniela
authors: D
authors: Antuzzi
authors: Giovanni
authors: G
authors: Gasbarrini
authors: Antonio
authors: A
authors: Gasbarrini
authors: Giovanni
authors: G
authors: Ghirlanda