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Q J Med 1995; 88: 55-59
© 1995 Association of Physicians

Not Wilson's disease: a review of misdiagnosed cases

J.M. WALSHE and M. YEALLAND1,*

The University Department of Medicine, Addenbrooke's Hospital, Cambridge and the Department of Neurology, The Middlesex Hospital London, UK 1 The Department of Neurology, Addenbrooke's Hospital Cambridge, UK

Address correspondence to Dr J.M. Walshe, Department of Neurology, The Middlesex Hospital, London W1N 8AA

Received 1 September 1994 Accepted for publication 6 October 1994.


  Abstract

During the period 1957–1987, 189 patients with neurological signs and symptoms were referred to the Wilson's disease clinic at Addenbrooke's Hospital, Cambridge. The diagnosis was not confirmed in 52 patients. Thirty-three of these 52 patients were sent with a definite diagnosis of Wilson's disease, and 12 had received chelation treatment. Ten patients were labelled as probable Wilson's disease; in nine cases no diagnosis had been made but Wilson's disease was considered a possibility requiring exclusion. One patient only was mistakenly reported to have Kayser-Fleischer rings. The presenting symptoms were tremor (n = 17), involuntary movements (n = 16), difficulty in walking (n = 12), personality changes (n=4) and epilepsy (n = 3). The mean delay in referral was 8 years (range 6 months to 20 years). Compared with the number of patients with confirmed neurological Wilson's disease seen in this period (137 patients) the referral diagnosis was correct in only 72% of cases. The reasons for error, both clinical and biochemical, are discussed.

*Present address: 9 Clarkson Road, Cambridge CB3 OEH


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