Vnitr Lek 2017, 63(12):980-986 | DOI: 10.36290/vnl.2017.178

Unusual history of Wilson disease: a case report and review of the literature

František Nehaj¹, Marianna Kubašková², Michal Mokáň¹, Juraj Sokol^3,*, Vladimír Nosáľ⁴, Kamil Zeleňák², Marián Mokáň¹

¹ I. Interná klinika JLF UK a UN Martin, Slovenská republika

² Rádiologická klinika JLF UK a UN Martin, Slovenská republika

³ Klinika hematológie a transfuziológie, Národné centrum hemostázy a trombózy JLF UK a UN Martin, Slovenská republika

⁴ Neurologická klinika JLF UK a UN Martin, Slovenská republika

Wilson disease (WD) belongs to autosomal recessive genetic metabolic disorders with gene mutation ATP7B located on 13^th chromosome. The enzyme ATPase plays an important role in WD. It facilitates excretion of copper into bile. This gene is responsible for modification of apoceruloplasmin. In this disease, it leads to insufficient release of copper from organism and accumulation of copper in organs such as liver, brain which can cause dysfunction of a certain organ. According to specific symptoms, we can divide WD into psychiatric, neurologic or hepatic form. The WD usually manifests between 15 and 25 years of age. Hepatic form often occurs sooner, on the contrary, the neurological variant usually occur during the later stages. We present a case report of 45-years-old woman with atypical medical history of WD, in which the diagnostic process was very long and had interdisciplinary character.

Keywords: brain; copper; diagnostic; genetics; liver; panda; Wilson disease

Received: April 16, 2017; Accepted: August 28, 2017; Published: December 1, 2017  Show citation