title: Bone involvement in Gaucher's disease: 'bone crisis' or disease complication?
abstract: Bone involvement can represent the inaugural symptom of Gaucher's disease (GD). Here, we report the case of a 68-year old man diagnosed as having GD since 1963. In June 1994 the patient was referred to our Rheumatology Unit because of a long-lasting coxalgia on the left hip and progressive walking impairment following traumatic fracture of the left femur. Multicystic osseous changes at standard X-ray and hyper-gamma-globulinemia with an elevated ESR (122 mm, 1st hour) suggested the diagnosis of either osteonecrosis of the femoral head or multiple myeloma. On bone marrow biopsy examination, Gaucher's cell infiltrates were detected and an increased uptake in the distal left femur and proximal tibia were demonstrated by lipophilic tracer scan (99mTc-Sestamibi). Subsequently, the patient suffered another femoral fracture at a site of Gaucher's infiltrates previously documented by bone scan. We conclude that in patients with GD, 99mTc-Sestamibi bone scan can selectively evaluate the presence of bone lipid deposits, and could indirectly differentiate this bone condition from other serious skeletal complications of the disease.
authors: Rheumatology Unit, University of Pisa, Italy.
authors: L
authors: L
authors: La Civita
authors: G
authors: G
authors: Mariani
authors: G
authors: G
authors: Porciello
authors: P
authors: P
authors: Viacava
authors: N
authors: N
authors: Molea
authors: E
authors: E
authors: Lazzeri
authors: G
authors: G
authors: Pasero
authors: C
authors: C
authors: Ferri
mesh_terms: D000368:Aged; D001706:Biopsy; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000473:pathology; D003937:Diagnosis, Differential; D005776:Gaucher Disease / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D008297:Male; D011859:Radiography; D011877:Radionuclide Imaging; D013669:Technetium Tc 99m Medronate; D017256:Technetium Tc 99m Sestamibi
chemical_list: D017256:Technetium Tc 99m Sestamibi; D013669:Technetium Tc 99m Medronate