Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy

T Andrew Burrow; Mitchell B Cohen; Ronald Bokulic; Gail Deutsch; Arabinda Choudhary; Richard A Falcone Jr; Gregory A Grabowski

doi:10.1016/j.jpeds.2006.10.062

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.

Authors

T Andrew Burrow¹, Mitchell B Cohen, Ronald Bokulic, Gail Deutsch, Arabinda Choudhary, Richard A Falcone Jr, Gregory A Grabowski

Affiliation

¹ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

PMID: 17236903
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