RESUMO
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 years. The aim of this study was to find the major clinical and pathologic findings of Wilson disease in children in Tehran. This retrospective study was carried out in the Mofid children's hospital. Thirty five patients suffering from Wilson disease were studied. Ceruloplasmin level below 20 mg/dl and urinary copper excretion level above 100 micro g/24hr were considered as the inclusion criteria. 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 invoIvement 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 and 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. According to this study, hepatic and neurologic involvement is the most consistent finding in the Wilson disease. Most patient were in the age's group of 8-9 and 10-11