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Hepatolenticular degeneration with hidden pathology of liver: Case report
- Authors: Vyalova N.V.1, Doloka D.S.1, Proskokova T.N.1, Khelimskiy A.M.1
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Affiliations:
- Far-Eastern State Medical University, Ministry of Health of the Russian Federation
- Issue: Vol 11, No 2 (2017)
- Pages: 72-75
- Section: Clinical analysis
- URL: https://annaly-nevrologii.com/journal/pathID/article/view/479
- DOI: https://doi.org/10.18454/ACEN.2017.2.10
- ID: 479
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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
Email: proskokova2011@yandex.ru
Russian Federation, Khabarovsk
Denis S. Doloka
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
Email: proskokova2011@yandex.ru
Russian Federation, Khabarovsk
Tatyana N. Proskokova
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
Author for correspondence.
Email: proskokova2011@yandex.ru
Russian Federation, Khabarovsk
Aleksandr M. Khelimskiy
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
Email: proskokova2011@yandex.ru
Russian Federation, Khabarovsk
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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).