Clinicopathologic Findings in 35 Children with Wilson Disease

Farid Imanzadeh, Ali Akbar Sayyari, Fatemeh Adib, Hazhir Javaherizadeh, Somayeh Fattah

Abstract


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 100µg/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.

Keywords


Wilson disease, liver

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