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Volume 2011 (2011), Article ID 361279, 4 pages
Case Report

Coxarthritis as the Presenting Symptom of Gaucher Disease Type 1

12nd Division of Paediatrics, G. Gaslini Institute, Largo Gaslini 5, 16129 Genova, Italy
2Department of Diagnostic Imaging, G. Gaslini Institute, Largo Gaslini 5, 16129 Genova, Italy
32nd Division of Paediatrics, G. Gaslini Institute, University of Genoa, Largo Gaslini 5, 16129 Genova, Italy

Received 1 December 2010; Revised 21 January 2011; Accepted 22 January 2011

Academic Editor: Shigeru Kotake

Copyright © 2011 Giacomo Brisca et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Gaucher disease (GD) type 1 is the most common lysosomal storage disorder due to beta glucocerebrosidase deficiency leading to an abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system. The disease presentation is usually characterized by signs and symptoms related to hypersplenism, such as splenomegaly, anaemia, thrombocytopenia and leucopenia. Skeletal disease may occur later for the infiltration of bone marrow by macrophages infiltration and bone resorption: bone involvement may be heterogeneously manifested by symptoms ranging from bone crisis to avascular necrosis, osteoporosis and defect in remodeling of long bones. Herein, we report a patient in whom the osteoarticular involvement has been the only symptom of the disease stressing that this unusual presentation of GD has prompted a wide differential diagnosis with more common forms of coxitis.