J Neurol Neurosurg Psychiatry 55:692-696 doi:10.1136/jnnp.55.8.692
  • Research Article

Wilson's disease: the problem of delayed diagnosis.

  1. J M Walshe,
  2. M Yealland
  1. University Department of Medicine, Addenbrooke's Hospital, Cambridge, UK.


      To discover the earliest symptoms and signs of neurological Wilson's disease we analysed the case histories of 136 patients who were seen between 1955-87: patients with hepatic or presymptomatic Wilson's disease were excluded from this series. Thirty one patients (23%) gave a history of an episode of liver damage. The onset of symptoms ranged from nine to 40 years with a median of 16.2 years. The correct diagnosis was made at presentation in only 43 patients. The mean delay before diagnosis was 12.8 months for the others. The earliest symptoms were dysarthria or difficulty with the hands, or often both. There was often an associated change in personality or deteriorating performance at school. The four common clinical pictures were Parkinsonian (61 cases), "pseudosclerotic" (33 cases), dystonic (21 cases) and choreic (15 cases): six cases were unclassified. Parkinsonian symptoms were equally common in children (under 17 years) and adults, a "pseudosclerotic" picture was much more common in adults but dystonic and choreic symptoms were seen more often in children. Experience suggests that no two patients are ever the same, even in a sibship.