In Wilson's disease, the Kayser-Fleischer ring is absent in which major hepatic presentation, making ophthalmic slit-lamp examination unreliable as a sole diagnostic test?

• A Chronic active hepatitis presentation
• B Cirrhosis with portal hypertension
• C Acute liver failure (fulminant Wilson's disease) ✓
• D Wilson's disease presenting with neuropsychiatric symptoms

Explanation

Kayser-Fleischer rings (copper deposition in Descemet's membrane) are absent in 30–50% of patients presenting with acute liver failure (fulminant Wilson's) — the disease is too acute for sufficient corneal copper deposition. By contrast, virtually 100% of patients with neuropsychiatric Wilson's have KF rings. In hepatic Wilson's without neurological disease, KF rings may also be absent in up to 50%. Diagnosis of acute Wilson's relies on Coombs-negative haemolytic anaemia, elevated copper/low ceruloplasmin, and the Leipzig score.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

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