Question:medium
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
Show Solution
The Correct Option is B
Solution and Explanation
Diagnostic-hierarchy approach.
The question hinges on the word "best." For Wilson disease, tests sit in a hierarchy from screening to confirmatory.
Screening tier: serum ceruloplasmin (low) and 24-hour urinary copper (high). Both are sensitive flags but neither is fully specific - ceruloplasmin is an acute-phase reactant and can be normal; urinary copper rises in other cholestatic liver diseases too.
Supportive/imaging tier: slit-lamp for KF rings and MRI brain showing "face-of-the-giant-panda" / basal-ganglia signal. These confirm organ involvement but not the metabolic defect.
Confirmatory tier: $hepatic\ copper\ content$ measured on liver biopsy (dry-weight copper, usually $> 250\ \mu g/g$). This directly demonstrates pathological copper overload in the target organ and is the gold standard / single best diagnostic test.
Decision.
Because the stem asks for the BEST (most definitive) investigation, we climb to the confirmatory tier → hepatic copper. Therefore the correct choice is Option B.
Why not the rest: Urine copper and ceruloplasmin are screening, not confirmatory; MRI brain is supportive imaging only. Hepatic copper wins.
The question hinges on the word "best." For Wilson disease, tests sit in a hierarchy from screening to confirmatory.
Screening tier: serum ceruloplasmin (low) and 24-hour urinary copper (high). Both are sensitive flags but neither is fully specific - ceruloplasmin is an acute-phase reactant and can be normal; urinary copper rises in other cholestatic liver diseases too.
Supportive/imaging tier: slit-lamp for KF rings and MRI brain showing "face-of-the-giant-panda" / basal-ganglia signal. These confirm organ involvement but not the metabolic defect.
Confirmatory tier: $hepatic\ copper\ content$ measured on liver biopsy (dry-weight copper, usually $> 250\ \mu g/g$). This directly demonstrates pathological copper overload in the target organ and is the gold standard / single best diagnostic test.
Decision.
Because the stem asks for the BEST (most definitive) investigation, we climb to the confirmatory tier → hepatic copper. Therefore the correct choice is Option B.
Why not the rest: Urine copper and ceruloplasmin are screening, not confirmatory; MRI brain is supportive imaging only. Hepatic copper wins.
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