A Neglected Case of Wilson Disease

Introduction: wilson’s disease is an autosomal recessive disorder, characterized by a disturbance in copper metabolism that leads to copper overload in different tissues of the body. because of various manifestations of wilson’s disease, physicians should have high index suspicion when patients manifest any type of liver disease, neurologic and psychiatric signs and symptoms. case presentation: a 7.5-year-old boy was referred, presenting with generalized pruritus and stammer since the age of 4. initial evaluation showed abnormal liver enzymes. abdominal sonography revealed multiple echogenic lesions without acoustic shadow in the gallbladder, which was suggestive for gallstone. after about two years, he suffered from weakness, drowsiness, fever, nausea, epistaxis and abnormal liver function tests. with through clinical and laboratory work up, wilson’s disease was finally diagnosed and appropriate treatment was started. acceptable response to treatment was achieved. discussion: wilson’s disease has a wide range of manifestation so physicians should have high index suspicion when patients present any type of liver disease, neurologic and psychiatric signs and symptoms. any delay in diagnosis or management can result in catastrophic outcomes.