title: Metaphyseal undertubulation in gaucher disease: resolution at MRI in a patient undergoing enzyme replacement therapy.
abstract: Gaucher disease is a sphingolipid storage disorder that results in the accumulation of Gaucher cells within the reticuloendothelial system. The life span can be near normal in the most common form. Our case illustrates the resolution of the skeletal findings in Gaucher disease following enzyme replacement therapy. We also report the correlation of these findings with clinical improvement.
authors.affiliation: Department of Radiology, Albany Medical College, NY, USA.
authors.forename: C G
authors.initials: CG
authors.lastname: Kelman
authors.forename: D G
authors.initials: DG
authors.lastname: Disler
mesh_terms: D000077:Acetabulum / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology*; D002648:Child; D005269:Femur / Q000473:pathology*; D005776:Gaucher Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013977:Tibia / Q000473:pathology*
chemical_list: C070292:alglucerase; D005962:Glucosylceramidase