A Patient with Late-onset Wilson's Disease: Deterioration with Penicillamine

Abstract

Scientific background: Wilson's disease (WD) is a rare autosomal recessive disorder of copper transportion. WD predominantly occurs in children, adolescents, and rarely, in patients over the age of 35 years and very seldomly in 6th decade. We report a very old patient whose symptoms and laboratory findings were suggestive of WD and markedlydeteriorated after initiation of penicillamine therapy. Case: We report a 77 year-old woman with a 10-year history of head tremor and a 2-year history of gradually progressive cerebellar and extrapyramidal symptoms associated with postural instability, which have been rapidly worsened within last months. Neurological examination revealed titubation of the head-amplitude tremor on the arms, dysmetria and dysdiadochokinesia on the limbs, dysarthria and parkinsonian symptoms including symmetrical bradykinesia and prominent postural instability associated with mild cognitive impairment. The magnetic resonance imaging (MRI) of the brain showed bilateral hyperintensity of the basal ganglia on T2-weighted images. Kayser-Fleischer rings were present bilaterally. There was an increased urinary excretion of copper (206 µg/24hr) and the liver biopsyspecimen revealed increased copper content on dıy weight (231µg/g). Her symptoms and severity of the lesions on the MRI markedly worsened after initiating penicillamine therapy. Conclusion: Based on the presented patient, we conclude the diagnosis of WD should be considered, though rarely seen, in patients with atypical neurological abnormalities especially movement disorders, even though age-at-onset is older than 65 years. Moreover, it may be better to avoid initial treatment with penicillamine especially in elderly patients with neurological WD.