Wilson Disease: A Case Series

Wilson’s disease is a rare autosomal recessive disorder that results in defective copper metabolism. It has a varied presentation and may be challenging to diagnose. Between 2022 and 2024, four female children at Assam Medical College presented with a range of hepatic, neurological and neuropsychiatric manifestations. Investigations in all cases revealed similar defects in copper metabolism, consistent with Wilson’s disease. As for management, the earlier the intervention is initiated, the better the prognosis for recovery. Several treatment options are available and should be tailored to each patient with neurological Wilson disease. Neurological Wilson Disease is considered a form of copper toxicity and immediate diagnostic evaluation and early treatment initiation are crucial, as the disease is potentially curable.