Published in:
01-11-2016 | Images in Metabolic Medicine
Large soft-tissue masses in an adult patient with Gaucher disease
Published in: Journal of Inherited Metabolic Disease | Issue 6/2016
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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.