Clinicopathologic Findings in 35 Children with Wilson Disease

Background and aim: wilson disease is a rare autosomal recessive disorder of copper metabolism. wilson disease is the most common metabolic cause of fulminant hepatic failure in children over the age of 3 years. the aim of this study was to find the major clinical & pathologic findings of wilson disease in children in tehran. patients and methods: this retrospective study was carried out in the mofid children’s hospital. thirty five patients suffering from wilson disease were studied. ceruloplasmin level below 20mg/dl and urinary copper excretion level above 100ìg/24hr were considered as the inclusion criteria. results: of the patients, 20 cases were males and 15 were females with average age of 9 years. the most patients were in 8-9 and 10-11 years age group with 37% and 20%, respectively. hepatic involvement was confirmed in 100% of patients. jaundice was seen in 20 patients (57%), abdominal enlargement together in 20 patients (57%), and encephalopathy in 9 patients (26%). serum copper was reduced in 100% and low-serum ceroluplasmin in 100%, increased urinary copper excretion in %97, increased ast & alt in 100%, increased pt was in 94% patients, anemia was found in 100%, leucopenia in 14%, and thrombocytopenia was seen in 71% of patients. in this study, 37% of patients had neurological symptoms such as tremor, ataxia, difficulty in speech and delayed education. 32 patients had undergone ophthalmic examination and 62% showed kf ring in their ophtalmoscopy. conclusion: according to this study, hepatic and neurologic involvement is the most consistent finding in the wilson disease. most patients were in the age's group of 8-9 and 10-11.