Diffuse Hypermetabolic Bone Marrow Infiltration in Severe Primary Hyperoxaluria on FDG PET

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. 18F-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.