Wilson's disease in a patient presenting with skeletal abnormalities

We present a case with extensive bone and joint involvement in the form of bone fragmentation and osteochondritis dessecans. The case was subsequently documented to be that of Wilson's disease. Biochemical screening was also carried out on the family members and the results of the findings are presented.link_to_subscribed_fulltex

Wilson's disease: 35 Years' experience

Thirty-seven Chinese patients fulfilling the criteria for Wilson's disease seen during a 35-year period were reviewed. Males and females were equally affected. Twenty-two patients were symptomatic and 15 asymptomatic; most of them presented before the third decade. Thirty-one per cent of the relatives screened showed evidence of disease, and parents were rarely affected (13 per cent). Half of the adult symptomatic females presented with primary amenorrhoea. Liver laboratory test were abnormal in only 50 per cent of patients, with γ-glutamyl-transpeptidase being the most sensitive index. Renal disease was infrequent. Serum caeruloplasmin level was the single biochemical parameter of prognostic significance (p = 0.0001). Seventy per cent of the symptomatic patients showed an improvement after treatment with penicillamine.link_to_subscribed_fulltex