A Child Presenting with Arthralgia Confirmed to Be Wilson's Disease

Backgrounds :Wilson's disease (WD) is a rare inherited disorder characterized by impaired hepatic copper metabolism, resulting in copper accumulation and multi-systemic manifestations, but arthritis as an initial manifestation is rare .We report a pediatric case of WD visiting the hospital for arthralgia. Case presentation A ten-year-old patient experienced recurrent arthralgia in the lower limbs, predominantly involved ankles and knees, and physical examination revealed tenderness in the right ankle joint and hepatomegaly. Laboratory investigations demonstrated liver disfunction, including elevated alanine aminotransferase, aspartate aminotransferase, and total bilirubin levels. The patient was subsequently diagnosed with WD based on the presence of Kayser-Fleischer rings on ophthalmic examination, low ceruloplasmin levels, and increased urinary copper excretion. With penicillamine and Zinc preparations therapy, the patient reported gradual improvement in arthralgia and liver function. Conclusion Wilson's disease should be considered in the differential diagnosis of patients presenting with arthralgia, especially in the presence of abnormal liver function tests.