Abstract
Wilson's disease is a rare autosomal recessive disorder characterized by impaired hepatic copper transport, leading to copper accumulation in tissues and diverse clinical manifestations. A 27-year-old male chemical factory worker presented with acute haemolytic anaemia, pancytopenia, jaundice, and altered sensorium, indicative of acute liver failure. Despite normal serum ceruloplasmin levels, elevated 24-hour urinary copper levels (227.53 µg/24 hours) supported the diagnosis of probable Wilson's disease. The patient responded to symptomatic management, including transfusions and antibiotics, with gradual clinical and biochemical improvement before discharge against medical advice. This case underscores the diagnostic challenges of Wilson's disease due to nonspecific symptoms and limitations of laboratory tests. It highlights the importance of clinical suspicion and a multidisciplinary approach to ensure accurate diagnosis and timely treatment.