title: Gaucher disease in the liver on hepatocyte specific contrast agent enhanced MR imaging.
abstract: Gaucher disease is a hereditary lipid storage disorder that affects the enzyme beta glucocerebrosidase, causing accumulation of glucocerebroside in macrophages of the reticuloendothelial system. Accumulation can occur in the liver and spleen, manifesting as hepatosplenomegaly, as well as within the bone marrow. Hepatic involvement is usually diffuse but can occasionally manifest as focal liver lesions. We present a case of a 2-year-old boy with Gaucher disease and an infiltrating liver lesion detected on imaging, which was pathologically shown to be focal changes related to the disease. Imaging characteristics of this lesion using hepatocyte specific contrast agent enhanced MRI, which have not been previously discussed in the literature, are described.
authors.affiliation: Department of Radiology, Columbia University Medical Center, Morgan Stanley Children's Hospital, 3959 Broadway, CHONY 3N, New York, NY, 10032, USA. rsa2121@cumc.columbia.edu.
authors.forename: Rama S
authors.initials: RS
authors.lastname: Ayyala
authors.affiliation: Department of Pathology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Teot
authors.affiliation: Department of Radiology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Jeanette M
authors.initials: JM
authors.lastname: Perez Rossello
mesh_terms: D002675:Child, Preschool; D003287:Contrast Media; D019786:Gadolinium DTPA; D005776:Gaucher Disease / Q000000981:diagnostic imaging*; D022781:Hepatocytes; D006801:Humans; D007089:Image Enhancement / Q000379:methods*; D008099:Liver / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male
chemical_list: D003287:Contrast Media; C073590:gadolinium ethoxybenzyl DTPA; D019786:Gadolinium DTPA
keywords: Child; Gaucher disease; Hepatocyte specific contrast agents; Liver; Magnetic resonance imaging