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Diffuse Hypermetabolic Bone Marrow Infiltration in Severe Primary Hyperoxaluria on FDG PET
David Tonnelet1, Khadija Benali1, Camille Rasmussen2
1From the Nuclear Medicine Department, Bichat Claude Bernard Hospital, Assistance Publique Hôpitaux de Paris, Inserm UMR-S 1148, Paris Diderot University.
Abstract:
A 24-year-old man, with type 1 primary hyperoxaluria (diagnosed at age 20 years after repeated renal lithiasis, due to a I244T mutation frequently encountered in Mediterranean countries) complicated by end-stage renal failure requiring dialysis, was admitted for pancytopenia, refractory to erythropoietin injections. On clinical examination, he presented a hepatosplenomegaly without palpable adenopathy. F-FDG PET/CT revealed intense and diffuse bone marrow uptake in the axial skeleton and preferential long bone metaphyseal uptake. Bone marrow aspiration showed Gaucher-like cells infiltration due to oxalate accumulation in macrophages, leading to the diagnosis of bone marrow involvement by primary hyperoxaluria.
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