Skeletal Radiology

, Volume 40, Issue 12, pp 1611–1615 | Cite as

Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease

  • Ian M Oppenheim
  • Astrid Medina Canon
  • William Barcenas
  • Catherine Groden
  • Ozlem Goker-Alpan
  • Charles S Resnik
  • Ellen SidranskyEmail author
Case Report


Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur but are rare and tend to be large, expanding intramedullary lesions with cortical thinning. We present two adolescent patients with type 3 GD who developed bilateral symmetrical cortical osteolytic lesions. The lesions in both cases demonstrate predominant cortical scalloping with fairly indolent growth. Neither patient manifests some of the more common bony manifestations of GD—bone crises or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expand the extent of phenotypic variation encountered in this single gene disorder.


Type 3 Gaucher disease Osteolytic Genotype L444P/L444P Glucocerebrosidase Gaucher cells 



This research was supported by the Division of Intramural Research of the National Human Genome Research Institute, and the National Institutes of Health. The authors wish to thank Dr. Adriana Linares of the Genzyme Corporation for putting the physicians of the two patients in contact with each other, Dr. Grisel Lopez and Karla Garcia for help with translation, Michael Melendez for help with image editing, and Drs. Michael Collins, Les Folio, and Edward McCarthy for helpful discussions.


  1. 1.
    Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill; 2001. p. 3635–68.Google Scholar
  2. 2.
    Walkley SU. Cellular pathology of lysosomal storage disorders. Brain Pathol. 1998;8(1):175–93.CrossRefGoogle Scholar
  3. 3.
    Knudson AG, Kaplan WD. Genetics of the spingolipidoses. In: Aronson SM, Volk BW, Jewish Chronic Disease Hospital (Brooklyn New York N.Y.), Isaac Albert Research Institute, editors. Cerebral sphingolipidoses; a symposium on Tay-Sachs’ disease and allied disorders. New York: Academic Press; 1962.Google Scholar
  4. 4.
    Deegan PB, Pavlova E, Tindall J, et al. Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore). 2011;90(1):52–60.CrossRefGoogle Scholar
  5. 5.
    Mikosch P, Hughes D. An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr. 2010;160(23–24):609–24.CrossRefGoogle Scholar
  6. 6.
    Wasserstein MP, Martignetti JA, Zeitlin R, et al. Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. Am J Med Genet. 1999;84(4):334–9.CrossRefGoogle Scholar
  7. 7.
    Grabowski GA, Hopkin RJ. Enzyme therapy for lysosomal storage disease: principles, practice, and prospects. Annu Rev Genomics Hum Genet. 2003;4:403–36.CrossRefGoogle Scholar
  8. 8.
    Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, Cox TM. Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood. 2000;96(5):1969–78.Google Scholar
  9. 9.
    van Dussen L, Lips P, Everts VE, et al. Markers of bone turnover in Gaucher disease: modeling the evolution of bone disease. J Clin Endocrinol Metab. 2011;96(7):2194–205.CrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Ian M Oppenheim
    • 1
  • Astrid Medina Canon
    • 2
  • William Barcenas
    • 3
  • Catherine Groden
    • 1
  • Ozlem Goker-Alpan
    • 1
  • Charles S Resnik
    • 4
  • Ellen Sidransky
    • 1
    Email author
  1. 1.Medical Genetics Branch, National Human Genome Research InstituteNational Institutes of HealthBethesdaUSA
  2. 2.Hospital Infantil de San JoséFundación CardioinfantilBogotáColombia
  3. 3.Barranquilla Seguro SocialBarranquillaColombia
  4. 4.Department of Diagnostic RadiologyUniversity of Maryland School of MedicineBaltimoreUSA

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