objective wilson disease (wd) is an inherited copper metabolism dysfunction disease characterized by cirrhosis and cns findings. wilson disease is important because it is fatal if not recognized and treated. our goal of study is to investigate the clinical signs and symptoms, lab results and other relevant matters in our patients in order to obtain a better understanding of this potentially let...

Wilson's disease (WD) is a rare autosomal recessive inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The presentation is usually neurologic or hepatic, seen in 40% of patients. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring. Here a case of Wilson disease with various neurological...

Wilson disease is an autosomal recessive copper storage disease resulting from an inability of the liver to excrete copper. Patients can present at a young age, generally with symptoms of liver copper intoxication, or later on, generally with neurological symptoms. The gene for Wilson disease has recently been cloned. Five mutations have been described so far, but only one is found frequently, ...

A 17-year-old girl with haemolytic anaemia, parenchymal livel disease and gallbladder calculi, is reported. Kayser-Fleischer rings, transaminasaemia, deficiency of ceruloplasmin, increased cupriuria, and nodular cirrhosis of the liver, confirmed the diagnosis of Wilson's disease. Penicillamine therapy had to be interrupted a short time after it was started, because of penicillamine-induces acut...