https://www.ncbi.nlm.nih.gov/pubmed/31974298 Wilson disease

Arch Dis Child. 2020 Jan 23. pii: archdischild-2018-315705. doi: 10.1136/archdischild-2018-315705. [Epub ahead of print]

Wilson disease in children and adolescents.

Fernando M1, van Mourik I2, Wassmer E3, Kelly D1.

Abstract

Wilson disease (WD) is a rare, recessively inherited disorder of copper metabolism mainly affecting liver and brain. In childhood, it is known to have a predominant hepatic phenotype. It is likely that the low awareness for WD-associated neuropsychiatric signs and symptoms in this age group means that neurological Wilson's disease is underdiagnosed in children and young people. Practitioners should be alert for this complication in children with or without liver disease. Management of children with WD requires a dedicated multidisciplinary approach involving hepatologists, geneticists, neurologists and psychiatrists to ensure subtle neuropsychiatric symptoms are identified early and addressed appropriately. This review highlights recent advances in hepatic and neuropsychiatric symptoms of WD in childhood, specific diagnostic tools and pitfalls and summarises existing and potential future treatment options.