Gaucher disease: A review of MSK MRI protocol and peripheral skeletal MRI findings

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.