title: Not Wilson's disease: a review of misdiagnosed cases.
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.
authors.affiliation: University Department of Medicine, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: J M
authors.initials: JM
authors.lastname: Walshe
authors.forename: M
authors.initials: M
authors.lastname: Yealland
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000032:analysis; D003951:Diagnostic Errors; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D006748:Hospital Departments; D006801:Humans; D008099:Liver / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D009462:Neurology; D012017:Referral and Consultation
chemical_list: D003300:Copper