Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy

J Pediatr. 2007 Feb;150(2):202-6. doi: 10.1016/j.jpeds.2006.10.062.

Abstract

A 5-year-old male with Gaucher's disease type 3 developed progressive mesenteric and mediastinal lymphadenopathy over 12 months, despite enzyme replacement therapy, contributing to the development of a protein-losing enteropathy. These complications are unique, indicating poorly accessible, differentially responsive compartments in patients with Gaucher's disease who are receiving enzyme therapy.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Disease Progression
  • Follow-Up Studies
  • Gaucher Disease / complications*
  • Gaucher Disease / diagnosis
  • Gaucher Disease / drug therapy*
  • Glucosylceramidase / therapeutic use*
  • Hepatomegaly / etiology*
  • Hepatomegaly / pathology
  • Humans
  • Lymphatic Diseases / etiology*
  • Lymphatic Diseases / pathology
  • Magnetic Resonance Imaging
  • Male
  • Mesentery / pathology
  • Risk Assessment
  • Splenomegaly / etiology*
  • Splenomegaly / pathology
  • Time Factors

Substances

  • Glucosylceramidase