MISSED CASE OF WILSON'S DISEASE

Wilson disease is an autosomal recessive disorder of copper metabolism due to impaired function of the intracellular copper transporter ATP7B. It has a prevalence of approximately one case in 30,000 live births in most populations. Patients may present with a wide variety of even within the same family. There is wide variability in the reported rates of the different clinical manifestations seen at the time of presentation. Regardless of whether clinical manifestations are initially present, patients often develop other clinical manifestations as the disease progresses.