A Case of a Young Girl Suffering from Genetically Confirmed Wilson Disease with Orthotopic Liver Transplantation

A rare genetical autosomal recessive disorder called Wilson disease (WD) is characterized by excess copper being deposited in numerous major organs, mainly the liver and brain causing hepatic, neurological and mental symptoms. WD is caused by mutations in the gene ATP7B. Although not always present, Kayser-Fleischer (KF) ring is the pathognomonic indication of WD and is caused by the deposition of copper in the corneas of the eyes. The condition worsens with time and, if ignored, may lead to fatality, liver illness and problems with the central nervous system. Preventing serious long-term damage and perhaps fatal consequences may be possible with early diagnosis and treatment. The goal of treatment is to lower the level of accumulated copper in the body and then maintain it to normal levels.

We present the case of a 26-year-old patient, known herself and also her sister with genetically confirmed hepato-lenticular degeneration, who came to our clinic for bilateral gonalgia with mixed mechanical and inflammatory character and for chronic low back pain. Other signs and symptoms of WD may include joint and bone disease, including osteoporosis and the development of osteophytes in the large joints, which is why the patient was investigated both clinico-biologically and imagistically in order to establish the optimal specialist treatment.