Mannosidosis: an unusual cause of a deforming arthropathy

Research paper by D. E. DeFriend, A. E. M. Brown, C. W. Hutton, P. M. Hughes

Indexed on: 01 Jun '00Published on: 01 Jun '00Published in: Skeletal Radiology


We report on a case of a deforming arthropathy in a young man with a lysosomal storage disorder. A 31-year-old man with a known diagnosis of mannosidosis presented with a painful swollen right elbow. Radiographs of his right elbow showed a disorganised joint with multiple fragments resembling the appearances of a neuropathic joint. This case provides further evidence that a deforming arthropathy may occur as part of the spectrum of skeletal abnormalities seen in mannosidosis.