A neuropsychological comparison of siblings with neurological versus hepatic symptoms of Wilson's Disease

Neurocase. 2015;21(2):154-61. doi: 10.1080/13554794.2013.878726. Epub 2014 Feb 5.


Wilson's Disease (WD) (also known as hepatolenticular degeneration) is a rare inherited autosomal recessive disorder of abnormal copper metabolism, with an estimated prevalence of approximately 1 in 30,000. The clinical features associated with WD are highly varied. However, subtypes generally reflect neurological, hepatic, and psychiatric symptoms. The present case study reports two brothers with a recent diagnosis of WD. Neurological symptoms and cognitive deficits were exhibited in one brother (BL) in the form of extrapyramidal features, while the other brother (AL) only exhibited hepatic symptoms. Extensive neuropsychological testing was conducted on both siblings to compare cognitive profiles. Results for BL indicated significantly impaired motor functioning and information processing speed, which impacted him significantly at school. Aspects of executive dysfunction were also apparent in addition to reduced visual and verbal memory, working memory, and attention. Results for AL revealed evidence of verbal memory difficulties and aspects of executive dysfunction. Comparison is made of the distinct and common cognitive characteristics of the cases presented in terms of implications for early intervention and management of cognitive difficulties.

Keywords: Wilson’s disease; cognition; hepatic; hepatolenticular degeneration; neurological; neuropsychological.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adolescent
  • Brain / pathology*
  • Executive Function
  • Hepatolenticular Degeneration / complications*
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / psychology
  • Humans
  • Intelligence
  • Male
  • Memory
  • Neuropsychological Tests
  • Siblings*