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Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance |
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| Authors: | L. W. Poll J.-A. Koch S. vom Dahl E. Loxtermann M. Sarbia C. Niederau D. Häussinger U. Mödder |
| Affiliation: | (1) Department of Diagnostic Radiology, Heinrich Heine University Düsseldorf, Moorenstrasse 5, D-40225 Düsseldorf, Germany, DE;(2) Department of Medicine, Division of Gastroenterology, Hepatology and Infectious Diseases, Heinrich Heine University Düsseldorf, Moorenstrasse 5, D-40225 Düsseldorf, Germany, DE;(3) Department of Oral and Maxillofacial Surgery, Heinrich Heine University Düsseldorf, Moorenstrasse 5, D-40225 Düsseldorf, Germany, DE;(4) Department of Pathology, Heinrich Heine University Düsseldorf, Moorenstrasse 5, D-40225 Düsseldorf, Germany, DE;(5) Department of Internal Medicine, St. Josef Hospital, Mülheimerstrasse 83, D-46045 Oberhausen, Germany, DE |
| 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. Received: 27 January 2000; Revised: 15 March 2000; Accepted: 16 March 2000 |
| Keywords: | : Gaucher's disease type I – Skeletal disease – Bone marrow imaging – MRI |
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