JSWMC

Wilson’s disease, a rare autosomal recessive disorder of copper metabolism, often manifests with hepatic, neurological, or psychiatric symptoms due to toxic copper accumulation. This case report describes a 20 year-old male from a remote tea garden in Sylhet, Bangladesh, diagnosed with Wilson’s disease during an evaluation for chronic liver disease. The patient presented with anemia, jaundice, ascites, and splenomegaly. Investigations revealed elevated liver enzymes, suggestive ultrasonographic findings, a raised hepatic Fibro-Scan score, and esophageal varices. Notably, the patient had a family history of Wilson’s disease, with two older siblings previously diagnosed. Despite the absence of consanguinity between the parents, this prompted further biochemical workup. The patient’s serum ceruloplasmin level was low, although 24-hour urinary copper excretion was within the normal range. Slit-lamp microscopy confirmed the presence of a Kayser-Fleischer ring in both the patient and the affected siblings. He was started on chelation therapy with penicillamine, alongside supportive management for chronic liver disease. This case highlights the extraordinary misfortune of three siblings from a non-consanguineous family being affected by a rare autosomal recessive disorder.