Review
Copyright ©2014 Baishideng Publishing Group Inc. All rights reserved.
World J Radiol. Sep 28, 2014; 6(9): 657-668
Published online Sep 28, 2014. doi: 10.4329/wjr.v6.i9.657
Imaging of Gaucher disease
William L Simpson, George Hermann, Manisha Balwani
William L Simpson, George Hermann, Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States
Manisha Balwani, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States
Author contributions: Simpson WL, Hermann G and Balwani M contributed equally to this work; Simpson WL drafted the manuscript; Hermann G and Balwani M critically revised the manuscript; Simpson WL, Hermann G and Balwani M approved the final version.
Correspondence to: William L Simpson, Jr., MD, Associate professor of Radiology, Department of Radiology, Icahn School of Medicine at Mount Sinai, Box 1234, 1 Gustave L Levy Place, New York, NY 10029, United States. william.simpson@mountsinai.org
Telephone: +1-212-2413832 Fax: +1-212-4278137
Received: December 28, 2013
Revised: April 9, 2014
Accepted: July 15, 2014
Published online: September 28, 2014
Core Tip

Core tip: Gaucher disease is the most common lysosomal storage disease resulting from accumulation of undegraded glucosylceramide in the reticuloendothelial system of the bone marrow, spleen and liver. Although affecting all three organs, the bone manifestations lead to the most debilitation. Visceral and bone marrow infiltration respond to enzyme replacement therapy however, the bone marrow response typically takes much longer.