SYNDROMIC VARIABILITY OF WILSONS-DISEASE IN CHILDREN - CLINICAL-STUDYOF 44 CASES

Background. In children with Wilson's disease, no clinical or laborato ry data are specific for diagnosis as in adult age. Aim, Clinical aspe cts and parameters of copper metabolism in a large series of pediatric cases are evaluated to establish certain criteria for diagnosis and f or correct treatment, even in difficult cases Methods, In 44 children with Wilson's disease, clinical aspects, histological features, labora tory parameters and data of copper metabolism have been studied. Forty patients, treated with penicillamine, were followed up (median 77 mon ths), Results, The 44 cases were classified as: asymptomatic forms (ni ne cases, six of them siblings of affected subjects), chronic hepatiti s (23 cases), hepatocerebral manifestations (four cases), decompensate d cirrhosis (six cases), fulminant hepatic failure with hemolytic anem ia (two cases). Ceruloplasmin levels were abnormal in 37 out of 43 res ted cases, but normal in six (14%) who showed high basal and after pen icillamine load urine copper excretion and increased hepatic copper co ntent. Urine copper concentration was pathological in 35 out of 42 tes ted cases (83%), but normal in seven patients under six years. Hepatic copper levels were very high in all the 20 tested patients. Under tre atment, 27 children had favourable outcome. One patient showed no evol ution of disease, seven patients worsened because of non-compliance to the therapy (one underwent successful liver transplantation) or sever e side effects. Five patients with failure died. Conclusions, Wilson's disease in children may present with a broad clinical spectrum, but t he liver involvement is by far the most prevalent. The early diagnosis , based on clinical suspicion and results of copper metabolism investi gation (including hepatic copper content evaluation in difficult cases ) and appropriate treatment can prevent the progression of the disease .