Hepatolenticular degeneration with hidden pathology of liver: Case report

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Abstract

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 АТР7В gene). Challenges of timely recognizing HLD and the modern potential of diagnosing the disease using the laboratory and instrumental techniques are discussed.

About the authors

Nadezhda V. Vyalova

Far-Eastern State Medical University, Ministry of Health of the Russian Federation, Khaba-rovsk

Author for correspondence.
Email: platonova@neurology.ru
Russian Federation

Denis S. Doloka

Far-Eastern State Medical University, Ministry of Health of the Russian Federation, Khaba-rovsk

Email: platonova@neurology.ru
Russian Federation

Tatyana N. Proskokova

Far-Eastern State Medical University, Ministry of Health of the Russian Federation, Khaba-rovsk

Email: platonova@neurology.ru
Russian Federation

Aleksandr M. Khelimskiy

Far-Eastern State Medical University, Ministry of Health of the Russian Federation, Khaba-rovsk

Email: platonova@neurology.ru
Russian Federation

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Copyright (c) 2017 Vyalova N.V., Doloka D.S., Proskokova T.N., Khelimskiy A.M.

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