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

Giovanni Battista Gasbarrini, Antonio Gasbarrini, Giuseppe Merra, Roberta Ricci, Daniela Antuzzi, Giovanni Ghirlanda, Ad Lago

Risultato della ricerca: Contributo in rivistaArticolo in rivista

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.
Lingua originaleEnglish
pagine (da-a)474-478
Numero di pagine5
RivistaCase Reports in Gastroenterology
Volume2
DOI
Stato di pubblicazionePubblicato - 2008

Keywords

  • Gaucher

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