DOI: 10.36347/sjmcr.2024.v12i03.009

Pages: 271-273

Wilson’s disease is a hereditary disorder of copper metabolism which leads to copper overload in different tissues of the body. Clinical presentation of Wilson disease can vary widely; therefore, diagnosis is not always straightforward. Here we report a 13-year-old girl presented with diffuse persistent stabbing pain in the abdomen, jaundice & dark urine. She had no history of unconsciousness, convulsion, deterioration of school performance, or alteration of sleep pattern. On examination, she was ill-looking, pale, and icteric. The liver was enlarged. Higher psychic Function was intact, with no neurological deficit. A slit-lamp examination by an ophthalmologist promptly revealed the presence of a “Kayser Fleischer Ring” in both eyes. On investigation, hemoglobin was 5.73g/dl, Total bilirubin-37.82mg/dl, ALT-50 IU, AST-95 IU, PT/INR-3.20, serum ceruloplasmin 21mg/dl. Twenty-four hours of urinary copper excretion after penicillamine challenge was 8784 μg/24 hours. We diagnosed the case as Wilson’s disease. This case report aims to share our experience regarding the clinical presentation and diagnosis of Wilson’s disease in a child where Kayser–Fleischer rings in eyes appeared before neurological manifestation occurs and normal serum ceruloplasmin which often creates a diagnostic dilemma.