Wilson disease – a case report
Wilson disease (hepatolenticular degeneration) is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport. The clinical manifestations of Wilson disease are predominantly hepatic, neurologic, and psychiatric, with many patients ha...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Amaltea Medical Publishing House
2018-06-01
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| Series: | Romanian Journal of Neurology |
| Subjects: | |
| Online Access: | https://rjn.com.ro/articles/2018.2/RJN_2018_2_Art-10.pdf |
| Summary: | Wilson disease (hepatolenticular degeneration) is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport. The clinical manifestations of Wilson disease are predominantly hepatic, neurologic, and psychiatric, with many patients having a combination of symptoms. Regardless of the clinical manifestations present initially, patients often develop other clinical manifestations as the disease progresses. Behavioural and psychiatric symptoms are more common in patients with neurologic involvement than in patients with hepatic involvement. However, behavioural and psychiatric symptoms due to Wilson disease are often misdiagnosed. This article presents the case of a 23-year-old male, presenting with psychiatric symptoms (depressions, insomnia) which progressed despite psychiatric treatment. After two years he was diagnosed with Wilson disease, confirmed by genetic testing. |
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| ISSN: | 1843-8148 2069-6094 |