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№3' 2019


International Medical Journal, Vol. 25., Iss. 3, 2019, P. 49−54.


Olena Leonidivna Tovazhnyanska, Oksana Ivanivna Kauk, Yevheniia Tarasivna Solovieva, Iryna Oleksandrivna Lapshina, Yuliia Kostiantynivna Remіnyak

Kharkiv National Medical University, Ukraine

Wilson's disease is a rare autosomal recessive inherited disease, the pathogenesis of which is associated with impaired copper metabolism in the body, that leads to its excessive accumulation in various organs and tissues, mainly in the liver and central nervous system. Typically the Wilson's disease manifests mainly at a young age. The history of studying this pathology has been described, wherein the important milestones were mentioned as the determination of the role of impaired copper metabolism in pathogenesis of the disease, the establishment of an autosomal recessive inheritance of Wilson's disease. A mandatory clinical manifestation of Wilson's disease is the formation of neurological symptoms as an akinetic−rigid syndrome, hyperkinesis, ataxia, tremor, muscle dystonia, which is associated with a predominant lesion of basal ganglia, the dentate of the cerebellum and substantia nigra. However, the Wilson's disease can be finally diagnosed only on the basis of a combination of clinical data, the results of an ophthalmic (presence of the Kayser − Fleischer ring) laboratory test and molecular genetic analysis. Treatment for Wilson's disease includes a diet that restricts the intake of foods high in copper, and prolonged use of D−penicillamine (cuprenyl). Zinc preparations and antioxidants are also used. Here we present a clinical case from our own practice of atypically early manifestation of Wilson's disease in a child of the first year of life.

Key words: Wilson’s disease, impaired copper metabolism, early childhood, extrapyramidal disorders, molecular genetic testing.


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