Abstract
The Wilson disease is a rare hereditary metabolic disease with autosomal recessive inheritance. It is caused by a dysfunction of the ATP7B protein that hampers copper excretion into the bile ducts and its integration into the ceruloplasmin.
Disease symptoms arise as a consequence of excess copper accumulation in various organs, especially in the liver and brain. Manifestations of the Wilson disease may be very diverse and it is necessary to consider this diagnosis in any patient aged 5–50 years with extrapyramidal, cerebellar or psychiatric symptoms, especially in a setting of liver dysfunction.
The most common neuropsychiatric symptoms include tremor, dysarthria, anxiety, depression, Parkinsonism, personality disorders, ataxia and dystonia. Final diagnosis requires the use of several auxiliary investigations: ophthalmic, genetic, brain magnetic resonance imaging and biochemical proof of disturbed copper metabolism.
Early diagnosis and treatment is necessary to avoid irreversible brain and liver damage. The Wilson disease has an excellent prognosis subject to early therapy initiation and life-long regular monitoring of its effect.
Key words: Wilson disease – neurologic manifestation – hepatolenticular degeneration – ATP7B mutation – chelation therapy The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.