Affiliation:
1. Department of Diagnostic, Molecular and Interventional Radiology, Icahn School of Medicine at Mount Sinai, New York, United States,
Abstract
Gaucher disease (GD) is the most common autosomal recessive lysosomal storage disorder. It results from a glucocerebrosidase deficiency, causing deposition of undegraded glucosylceramide, predominantly in the reticuloendothelial system. The purpose of this article is to detail our institution’s magnetic resonance imaging (MRI) protocol for GD, review its axial and appendicular skeletal MRI characteristics, and suggest clinically relevant radiology reporting tips.
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