99mTc-MDP Bone Scintigraphy in Gaucher Disease.

In this case report, we present the bone scintigraphic findings of a 9-year-old boy with Gaucher disease who has a history of fractures to evaluate the extent of his osseous lesions. Gaucher disease is a genetic deficiency of lysosomal enzyme glucocerebrosidase, which results in the accumulation of glucocerebroside in the macrophages in the reticuloendothelial cells of the spleen, liver, and bone marrow. Most patients with type 1 Gaucher disease present a clinical or radiographic evidence of infiltrative bone disease. Lipid-filled macrophages called Gaucher cells infiltrate the bone marrow, leading to medullary expansion, diffuse osteoporosis, ischemic necrosis, and fractures.