“Wilson’s crisis” in a 17-year-old patient

Background. Wilson’s disease is a rare genetic disease accompanied by impaired copper excretion from the body and excessive accumulation of this micronutrient in tissues. The clinical picture of the disease is very variable, and may be the cause of late diagnosis. Early start of pathogenetic therapy promotes favorable prognosis, satisfactory quality of life of patients and, in some cases, disease regression. Description of the clinical case. Clinical case of Wilson’s disease in 17-year-old patient with pronounced extrahepatic manifestations, development of fulminant hepatic failure and death is presented. Modern criteria of diagnosis of Wilson’s disease are considered, stages of diagnostic search and difficulty in making final diagnosis are described. Conclusion. This case may be of practical interest to the clinicians, because, patients with Wilson’s disease are rarely observed in therapeutic practice, and at the time of their detection, irreversible changes in the liver and central nervous system may already develop. At the same time, timely diagnosis and pathogenetic therapy contribute to stabilizing the process and preserving the lives of patients.

Wilson’s disease, hepatolenticular degeneration, extrahepatic manifestations, fulminant hepatic failure