A COMPREHENSIVE CASE REPORT ON PEDIATRIC PRESENTATION OF WILSONS DISEASE

Mukesh Kumar Saphi*, Yalla Sai Vijaya Durga, Sunny Kumar Yadav, Allu Tejaswi and Amit Kumar

Wilson’s disease is a rare genetic illness characterized by defective hepatic transport indicating towards accumulation of copper in different organs, mostly in the brain, liver, eye, among various organs. It is also referred as hepatolenticular degeneration in which improper copper metabolism takes place. Although copper is an basic element for normal physiologic function, If there is too much copper in organs of the body leads to toxic effects and life-threatening conditions, especially liver and brain. Early recognition and diagnosis are essential to prevent irreversible organ damage. We present a case of pediatric patients with Wilson disease where the patient presented with hepatic symptoms and neurological symptoms. This case report offers clinical manifestation, diagnostic challenge, and therapeutic management of a 10-year-old male patient diagnosed with Wilson disease. This case report emphasizes the significance of prompt recognition, diagnosis, and intervention to avert life-threatening consequences.