Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease

Ewan A Simpson, Matthew R F Jaring, Savvas Andronikou

Research output: Contribution to journalArticle (Academic Journal)peer-review


Protein-losing enteropathy due to massive mesenteric lymphadenopathy is a rare complication of Gaucher disease which is generally refractory to treatment with enzyme replacement and substrate reduction therapies. It is postulated that lymph nodes may act as a "sanctuary site" into which these treatments cannot penetrate. We present the case of a male child with Gaucher disease who developed massive mesenteric lymph nodes despite otherwise successful treatment with enzyme replacement therapy, and subsequently developed protein-losing enteropathy. The sonographic and magnetic resonance appearances of this complication are shown. Large volume lymphadenopathy inevitably provokes concern about the possibility of malignancy, but in a patient with Gaucher disease-particularly with significant ascites and clinical features of protein-losing enteropathy-this rare complication should be considered.

Original languageEnglish
Pages (from-to)e300-e301
JournalJournal of Pediatric Hematology/Oncology
Issue number5
Publication statusPublished - 1 Jul 2017


  • Enzyme Replacement Therapy
  • Gaucher Disease
  • Humans
  • Infant
  • Lymph Nodes
  • Lymphadenopathy
  • Magnetic Resonance Imaging
  • Male
  • Mesentery
  • Protein-Losing Enteropathies
  • Ultrasonography
  • Case Reports
  • Journal Article

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