Download PDF
J Pediatr Genet 2022; 11(01): 047-050
DOI: 10.1055/s-0040-1714699
Case Report

Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas

Shoji Yano 
1   Division of Genetics, Department of Pediatrics, Los Angeles County + USC Medical Center, University of Southern California, Los Angeles, California, United States
,
Kathryn Moseley
1   Division of Genetics, Department of Pediatrics, Los Angeles County + USC Medical Center, University of Southern California, Los Angeles, California, United States
,
Neha Mahajan
2   Department of Pediatrics, Los Angeles County + USC Medical Center, University of Southern California, Los Angeles, California, United States
,
Mikako Warren
3   Department of Pathology, Children's Hospital Los Angeles, University of Southern California, Los Angeles, California, United States
,
Linda Vachon
4   Department of Radiology, Los Angeles County + USC Medical Center, University of Southern California, Los Angeles, California, United States
› Author Affiliations Funding None.
› Further Information
Also available at
    Permissions and Reprints

Abstract

Gaucheromas, which are pseudotumors consisting of a cluster of Gaucher cells, are rare complications in Gaucher's disease (GD) and reported in patients treated with enzyme replacement therapy (ERT). Gaucheromas commonly develop in the lymph nodes in the mesenteric and mediastinal regions and can cause serious complications including protein-losing enteropathy. A large mesenteric Gaucheroma showed a significant reduction in size after initiation of substrate reduction therapy (SRT) with eliglustat in an adult patient with GD type 3. Combination therapy with ERT and SRT should be considered to prevent Gaucheromas in patients with GD.

Keywords

Gaucher's disease - enzyme replacement therapy - combination therapy

Note

Written informed consent was obtained from the patient for publication of this case report.


Ethical Approval

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Declaration of Helsinki 1975. Informed consent was obtained from the patients (and/or the parents) reported in this case report and the patient agreed with the content and with submitting this case report for consideration for publication in this journal.


The report of single case without identifiable information in the case report not requiring Institutional Review Board approval or ethics approval from the University of Southern California.




Publication History

Received: 01 May 2020

Accepted: 12 June 2020

Article published online:
29 July 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Lim AKP, Vellodi A, McHugh K. Mesenteric mass in a young girl--an unusual site for Gaucher's disease. Pediatr Radiol 2002; 32 (09) 674-676
    CrossrefPubMedGoogle Scholar
  • 2 Tseng SY, Niu DM, Chu TH. et al. Very rare condition of multiple Gaucheroma: a case report and review of the literature. Mol Genet Metab Rep 2019; 20: 100473
    CrossrefPubMedGoogle Scholar
  • 3 Mahajan N, Brynes R, Yano S. Large soft-tissue masses in an adult patient with Gaucher disease. J Inherit Metab Dis 2016; 39 (06) 887-888
    CrossrefPubMedGoogle Scholar
  • 4 Ye ZX, Gao X, Qu Q, Ye X, He XD. Gaucher disease with mesenteric lymphadenopathy: a case with 13-year follow-up. Chin Med J (Engl) 2016; 129 (20) 2502-2503
    CrossrefPubMedGoogle Scholar
  • 5 Mhanni AA, Kozenko M, Hartley JN, Deneau M, El-Matary W, Rockman-Greenberg C. Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease. Mol Genet Metab Rep 2015; 6: 13-15
    CrossrefPubMedGoogle Scholar
  • 6 Mahajan N, Warren M, Yano S. Reduction of large soft-tissue Gaucheromas with substrate reduction therapy. J Inherit Metab Dis 2020; 43 (02) 375-376
    CrossrefPubMedGoogle Scholar
  • 7 Smid BE, Ferraz MJ, Verhoek M. et al. Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients. Orphanet J Rare Dis 2016; 11: 28
    CrossrefPubMedGoogle Scholar
  • 8 Boven LA, van Meurs M, Boot RG. et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 2004; 122 (03) 359-369
    CrossrefPubMedGoogle Scholar
  • 9 Endo S, Mizuta K, Yamatodani T. et al. A case of improved hearing with cochlear implantation in Gaucher disease type 1. Auris Nasus Larynx 2018; 45 (03) 603-607
    CrossrefPubMedGoogle Scholar
  • 10 Khan A, Stimpson P, Karmolinski A, Patel N. Middle-ear involvement in type I Gaucher's disease - a unique case. J Laryngol Otol 2013; 127 (12) 1226-1229
    CrossrefPubMedGoogle Scholar
  • 11 Kojima Y, Fukumoto S, Furukawa K. et al. Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids. J Biol Chem 2000; 275 (20) 15152-15156
    CrossrefPubMedGoogle Scholar