A Case Report on Wilson’s Disease

Wilson’s disease is a chronic, progressive disease with a genetically determined autosomal recessive mode of inheritance and multi-systemic condition, in which the copper is accumulated in the Kidneys, Eyes, Liver and especially in the basal ganglia in the central nervous system. In Wilson's disease, the cirrhotic state of the liver is combined with degenerative changes in the lenticular nuclei of the brain, also known as hepato-lenticular degeneration. A 14-year-old male was admitted to the department of Paediatric with chief complaints of tremors of both upper limbs in the last 6 months, increased in intensity for 2 months. He was unable to button and unbutton the dress, handwriting was altered. He had splenomegaly, cirrhosis of the liver, bilateral Kayser-Fleischer rings, and gynecomastia. On investigation, his alkaline Phosphatase and albumin levels were increased and globulin, ceruloplasmin and serum copper levels were decreased. The patient was kept under copper chelators such as D-Penicillamine and zinc acetate. Gradually he showed improvement in clinical signs and Liver function tests. Prior recognition and awareness of Hepatic manifestations, KF rings, and involuntary movements of limbs will be useful for quick diagnosis and for preventing manifestations in siblings as this is an inherited metabolic disorder.