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A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy

  • Raajiv Prasad
  • Jane Estrella
  • John Christodoulou
  • Geoffrey McKellar
  • Michel C. Tchan
Research Report
Part of the JIMD Reports book series


We report the third case of Glycogen Storage Disease type 1b (GSD 1b) with Giant Cell Tumour (GCT) of the mandible, associated with Granulocyte Colony Stimulating Factor (G-CSF) use. G-CSF in GSD 1b is indicated for persistent neutropaenia, sepsis, inflammatory bowel disease and severe diarrhoea. Our patient was 12 years old at GCT diagnosis and had been treated with G-CSF from 5 years of age. He underwent therapy with interferon followed by local resection which was successful in initial control of the disease. Histology demonstrated spindle shaped stromal cells together with numerous interspersed multinuclear osteoclastic giant cells. G-CSF has been hypothesized to induce osteoclastic differentiation and thus may be involved in the pathogenesis of GCT formation. At age 19 years he required a repeat operation for local recurrence. He currently continues on G-CSF and was commenced on denosumab for control of the GCT with no recurrence to date. A cause and effect relationship between G-CSF therapy and the development of GCT in GSD type 1b remains to be established.


G-CSF Giant cell tumour of the mandible Glycogen storage disorder SLC37A4 


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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017

Authors and Affiliations

  • Raajiv Prasad
    • 1
  • Jane Estrella
    • 2
    • 3
  • John Christodoulou
    • 4
    • 5
  • Geoffrey McKellar
    • 6
  • Michel C. Tchan
    • 7
    • 8
  1. 1.Hobart Clinical School, University of TasmaniaHobartAustralia
  2. 2.Western Sydney University Clinical School, Campbelltown CampusCampbelltownAustralia
  3. 3.Department of EndocrinologyCampbelltown HospitalCampbelltownAustralia
  4. 4.Neurodevelopmental Genomics Research GroupMurdoch Children’s Research InstituteParkvilleAustralia
  5. 5.Department of Paediatrics, Melbourne Medical SchoolUniversity of MelbourneMelbourneAustralia
  6. 6.Department of Oral and Maxillofacial SurgeryWestmead HospitalWestmeadAustralia
  7. 7.Department of Genetic MedicineWestmead HospitalWestmeadAustralia
  8. 8.Sydney Medical School, University of SydneyCamperdownAustralia

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