Question:
A patient presents with the finding as shown. What is the best investigation for Wilson?
A patient presents with the finding as shown. What is the best investigation for Wilson?
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Screening tests (ceruloplasmin, urine copper) flag Wilson disease, but the gold-standard confirmation is measured directly in the organ that overloads first.
Updated On: Jun 22, 2026
- Urine Copper
- Hepatic copper
- S. Ceruloplasmin
- MRI Brain
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The Correct Option is B
Solution and Explanation
Step 1: Recall Wilson disease. Wilson disease is an autosomal-recessive defect of the ATP7B copper-transporting protein. Failure to excrete copper into bile causes copper accumulation in the liver, then the brain (basal ganglia) and eyes (Kayser-Fleischer rings). It presents with hepatic disease, neuro-psychiatric features and KF rings.
Step 2: Compare the diagnostic tests. Several tests support the diagnosis: low serum ceruloplasmin, raised 24-hour urinary copper, KF rings on slit-lamp, and MRI brain changes. However, the single most accurate / confirmatory ("best" / gold-standard) test is the liver biopsy hepatic copper quantification, which shows markedly elevated dry-weight liver copper (typically >250 µg/g).
Step 3: Select the answer. Among the choices, hepatic (liver) copper estimation is the most definitive, so Option B is correct.
Step 4: Why the others are not "best". (A) 24-hour urinary copper is a useful screening/monitoring test but can be raised in other cholestatic liver diseases. (C) Serum ceruloplasmin is a screening test and is normal in up to 10-15% of cases and falsely high as an acute-phase reactant. (D) MRI brain only shows non-specific basal-ganglia signal changes and supports neurological involvement, not a definitive diagnosis.
Final Answer: Option B - Hepatic copper (liver copper quantification).
Step 2: Compare the diagnostic tests. Several tests support the diagnosis: low serum ceruloplasmin, raised 24-hour urinary copper, KF rings on slit-lamp, and MRI brain changes. However, the single most accurate / confirmatory ("best" / gold-standard) test is the liver biopsy hepatic copper quantification, which shows markedly elevated dry-weight liver copper (typically >250 µg/g).
Step 3: Select the answer. Among the choices, hepatic (liver) copper estimation is the most definitive, so Option B is correct.
Step 4: Why the others are not "best". (A) 24-hour urinary copper is a useful screening/monitoring test but can be raised in other cholestatic liver diseases. (C) Serum ceruloplasmin is a screening test and is normal in up to 10-15% of cases and falsely high as an acute-phase reactant. (D) MRI brain only shows non-specific basal-ganglia signal changes and supports neurological involvement, not a definitive diagnosis.
Final Answer: Option B - Hepatic copper (liver copper quantification).
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