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Suspected Wilson's Disease Presenting with Normal Serum Ceruloplasmin Levels

Atul Singh Rajput, Gunjan Singh Dalal and Jyoti Jain

Wilson’s disease, also known as ‘Hepatolenticular degeneration’ is a disorder of copper handling. The clinical picture parallels the pathophysiology with symptoms of basal ganglia (10 to 100%), cerebellar dysfunction (18 to 73%) and liver dysfunction (18 to 84%). The patient profile usually describes a young male or female with signs of cerebellar dysfunction (Ataxia, Dysarthria and Nystagmus), basal ganglia dysfunction (Choreoathetosis), Kayser Fleisher (KF) rings in cornea and hepatic involvement (any form of acute or chronic liver disease). The basic pathophysiology relates to improper handling of copper by the liver owing to the dysfunctional ATP7B gene. The diagnostic tests include an increased urinary copper excretion (100 ug/dl), reduced serum ceruloplasmin levels (< 25 mg/dl) and increased hepatic copper concentration (> 200 ug/gm of liver tissue). Although reduced serum ceruloplasmin levels are observed in most patients of Wilson disease, some proportion of patients particularly with acute hepatitis type of presentation can spuriously have raised ceruloplasmin levels thus posing the clinicians a diagnostic challenge especially in rural resource limited set ups. Presentations like these can be quite misleading as clinical suspicion index remains pretty low despite extensive laboratory work up. We report a case of such a patient of acute hepatitis with normal serum ceruloplasmin levels but significantly elevated urinary copper excretion. The patient showed wonderful response to oral zinc replacement evidenced with clinicobiocemical improvement.