Features of Early Diagnosis of Wilson-Konovalov Disease

Abstract

16 years old patient suffered from hepatolenticular degeneration (tremor-rigid form) with severe clinical signs of liver damage, after growth of over 3 years of neurological extrapyramidal disturbances as a tremor, gait disturbance, behavioral, psycho-emotional disturbances, severe changes in the laboratory and instrumental investigations, neuroimaging studies have exhibited a clinical diagnosis. Given the latency of the disease, our case demonstrates the difficulty of diagnosis at an early stage of development, underestimation of changes in the nervous system. Of course, the progressive course of the disease, leading to disability, but the prognosis is improved by the appointment of adequate therapy in the early stages of the disease.