Journal of Inherited Metabolic Disease

, Volume 39, Issue 6, pp 887–888 | Cite as

Large soft-tissue masses in an adult patient with Gaucher disease

  • Neha Mahajan
  • Russell Brynes
  • Shoji Yano
Images in Metabolic Medicine


Extra-osseous masses are rarely seen in Gaucher disease. Here we present a case of a 30-year-old patient with Gaucher disease type 3, receiving β-glucocerebrosidase enzyme replacement therapy, who presented with slowly enlarging masses along her back. There was no osseous extension seen on imaging. Biopsy of the mass ultimately showed extensive soft tissue infiltration by Gaucher cells. No other cases of soft-tissue masses of this extent have been described in the literature, and therefore management remains unclear.


Enzyme Replacement Therapy Mesenteric Lymph Node Gauche Disease Genetic Clinic Gluteal Region 
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Copyright information

© SSIEM 2016

Authors and Affiliations

  1. 1.Genetics Division, Department of PediatricsLAC + USC Medical Center, University of Southern CaliforniaLos AngelesUSA
  2. 2.Department of PathologyLAC + USC Medical Center, University of Southern CaliforniaLos AngelesUSA

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