Wilson's disease

(Samuel Alexander Kinner Wilson, 1877 - 1937, English neurologist), a rare autosomal, recessively inherited disorder, also known as hepatolenticular degeneration. This disorder results from relentless accumulation of copper in the liver, brain and other tissues, although serum levels of copper and ceruloplasmin are decreased. Characteristic features include degenerative changes in the brain, especially the basal ganglia, cirrhosis of the liver, and diagnostic Kayser Fleischer rings in the cornea.

Joint alterations are unusual in children but are common in adults. Among the abnormalities are subchondral bone fragmentation, cyst formation, cortical irregularities, and sclerosis in the wrist, hand, foot, hip, shoulder, elbow and knee. Distinct ossicles may appear, which possess complete cortices. The subchondral bone is indistinct, and focal areas of fragmentation of the joint surface can be observed. In some cases larger areas of fragmentation occur, which resemble findings of osteochondritis dissecans. Joint space loss limited to the patellofemoral space, small joint effusions, peculiar osteophytes at bone prominences, fluffy periostitis of the trochanters and inferior surface of the calcaneus, and irregularity of vertebral body contour (wedging) simulating the changes of juvenile kyphosis or Scheuermanns disease may also be seen.

Osteopenia is also common and may lead to fractures. Rickets, osteomalacia and the Fanconis syndrome may likewise occur in patients with Wilson's disease. Chondrocalcinosis has been noted but is rare.

DR