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 live...
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| Format: | Article |
| Language: | English |
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Research Center of Neurology
2017-08-01
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| Series: | Анналы клинической и экспериментальной неврологии |
| Subjects: | |
| Online Access: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/479/369 |
| _version_ | 1818240548714053632 |
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| author | Nadezhda V. Vyalova Denis S. Doloka Tatyana N. Proskokova Aleksandr M. Khelimskiy |
| author_facet | Nadezhda V. Vyalova Denis S. Doloka Tatyana N. Proskokova Aleksandr M. Khelimskiy |
| author_sort | Nadezhda V. Vyalova |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T13:15:12Z |
| format | Article |
| id | doaj.art-08b960c07e854174b32a56be71e19398 |
| institution | Directory Open Access Journal |
| issn | 2075-5473 2409-2533 |
| language | English |
| last_indexed | 2024-12-12T13:15:12Z |
| publishDate | 2017-08-01 |
| publisher | Research Center of Neurology |
| record_format | Article |
| series | Анналы клинической и экспериментальной неврологии |
| spelling | doaj.art-08b960c07e854174b32a56be71e193982022-12-22T00:23:25ZengResearch Center of NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-25332017-08-01112727510.18454/ACEN.2017.2.10362Hepatolenticular degeneration with hidden pathology of liver: Case reportNadezhda V. Vyalova0Denis S. Doloka1Tatyana N. Proskokova2Aleksandr M. Khelimskiy3Far-Eastern State Medical University, Ministry of Health of the Russian FederationFar-Eastern State Medical University, Ministry of Health of the Russian FederationFar-Eastern State Medical University, Ministry of Health of the Russian FederationFar-Eastern State Medical University, Ministry of Health of the Russian FederationA 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.https://annaly-nevrologii.com/journal/pathID/article/viewFile/479/369hepatolenticular degenerationmovement disordersdiagnosis |
| spellingShingle | Nadezhda V. Vyalova Denis S. Doloka Tatyana N. Proskokova Aleksandr M. Khelimskiy Hepatolenticular degeneration with hidden pathology of liver: Case report Анналы клинической и экспериментальной неврологии hepatolenticular degeneration movement disorders diagnosis |
| title | Hepatolenticular degeneration with hidden pathology of liver: Case report |
| title_full | Hepatolenticular degeneration with hidden pathology of liver: Case report |
| title_fullStr | Hepatolenticular degeneration with hidden pathology of liver: Case report |
| title_full_unstemmed | Hepatolenticular degeneration with hidden pathology of liver: Case report |
| title_short | Hepatolenticular degeneration with hidden pathology of liver: Case report |
| title_sort | hepatolenticular degeneration with hidden pathology of liver case report |
| topic | hepatolenticular degeneration movement disorders diagnosis |
| url | https://annaly-nevrologii.com/journal/pathID/article/viewFile/479/369 |
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