NOT WILSONS-DISEASE - A REVIEW OF MISDIAGNOSED CASES

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 pati ents were labelled as probable Wilson's disease; in nine cases no diag nosis 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), in voluntary movements (n=16), difficulty in walking (n=12), personality changes (n=4) and epilepsy (n=3). The mean delay in referral was 8 yea rs (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.