Abstract.
Gaucher's disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of bone marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gaucher's disease. Extraosseous extension of Gaucher cells is an extremely rare manifestation of skeletal Gaucher's disease. This is a report on the MRI and histopathological findings of an extraosseous Gaucher-cell extension into the midface in a patient with Gaucher's disease.
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Received: 27 January 2000; Revised: 15 March 2000; Accepted: 16 March 2000
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Poll, L., Koch, JA., vom Dahl, S. et al. Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance. Eur Radiol 10, 1660–1663 (2000). https://doi.org/10.1007/s003300000446
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DOI: https://doi.org/10.1007/s003300000446