Hepatolenticular degeneration with hidden pathology of liver: Case report

A case of hepatolenticular degeneration (HLD) in a 27-year-old patient is reported. The earliest signs of the disease were observed as isolated psychoneurological symptoms (mainly as polymorphic extrapyramidal and cerebellar disorders). Neither clinical, nor laboratory, nor sonographic signs of liver pathology were detected. Liver pathology was revealed only during special examination by elastography. The diagnosis was verified by molecular genetic testing (detecting mutations in the АТР 7 В gene). Challenges of timely recognizing HLD and the modern potential of diagnosing the disease using the laboratory and instrumental techniques are discussed.