Cystinosis with Sclerotic Bone Lesions

Abstract

A 26-year-old male with nephropathic cystinosis treated with cysteamine and renal transplantation presented for evaluation of multiple sclerotic bone lesions, which were an incidental finding on chest computerized tomography. These lesions were in a pattern consistent with osteoblastic metastases. He did not have a history of clinically significant hyperparathyroidism or cytopenias either preceding or following his transplant. Bone and tumor markers (including alkaline phosphatase and calcium) were all normal. A percutaneous bone biopsy of the lesions showed changes compatible with cystine deposition. Our case demonstrates that sclerotic bone lesions can be a feature of cystinosis in patients with normal parathyroid function and that significant bone marrow infiltration with cystine can be present even in the absence of cytopenias.