Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma

Pediatr Blood Cancer. 2009 Jul;52(7):870-1. doi: 10.1002/pbc.21948.

Abstract

Gaucher disease (GD) is a lysosomal storage disease characterized by deficiency of beta-glucocerebrosidase, which results in accumulation of glucocerebroside in reticuloendothelial system, bone marrow infiltration, progressive hepatosplenomegaly, and skeletal complications. Herein we report a 5-year-old female with GD receiving enzyme replacement therapy who had giant mesenteric lymphadenopathies.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Female
  • Gaucher Disease / diagnosis*
  • Gaucher Disease / genetics
  • Gaucher Disease / therapy
  • Glucosylceramidase / deficiency
  • Glucosylceramidase / genetics*
  • Glucosylceramidase / therapeutic use
  • Humans
  • Infant
  • Lymphatic Diseases / diagnosis*
  • Lymphatic Diseases / genetics
  • Lymphatic Diseases / therapy
  • Lymphoma / diagnosis*
  • Lymphoma / genetics
  • Lymphoma / therapy
  • Tomography, X-Ray Computed

Substances

  • Glucosylceramidase