Wilson’s disease is a rare genetic disorder that affects copper metabolism in the body, leading to excess copper accumulation in various organs, including the liver and brain. It often presents to both primary and secondary care, with a combination of liver disease and neurological or psychiatric symptoms, but the presentation can be highly variable. Early recognition and treatment of Wilson’s disease is important to prevent critical hepatic and neurological complications. In this case report, we describe the presentation of an 18-year-old male university student with a combination of dysphagia, tremors, and slurred speech, which progressed over several months. Through a series of investigations, the patient was diagnosed with Wilson’s disease and received appropriate treatment. This report highlights the importance of considering Wilson’s disease in patients with a wide range of symptoms and the need for a pragmatic approach to diagnosis, including routine and additional testing as necessary.
Wilson’s disease – a tricky diagnosis on the acute take
12th June 2023
PMID: 37306135
| Authors | Affiliations |
|---|---|
| James Baker | Harrogate and District NHS Foundation Trust |
| Soham Chakraborty | Harrogate and District NHS Foundation Trust |
| Rosaria Buccoliero | Harrogate and District NHS Foundation Trust |
| Sachin Thakur | Harrogate and District NHS Foundation Trust |
Wilson’s disease – a tricky diagnosis on the acute take
Cite this article as:
Baker J, Chakraborty S, Buccoliero R, Thakur S. Wilson's disease - a tricky diagnosis on the acute take. Acute Med. 2023;22(2):96-100. doi: 10.52964/AMJA.0941. PMID: 37306135.
