ArticleAnnals of translational medicine2019
Difficulties in diagnosis and treatment of Wilson disease-a case series of five patients.
Article in Annals of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Early neurological deterioration in Wilson's disease: a systematic literature review and meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Pooled it
- When Speech Signals Wilson Disease: A Case Report.Cureus · 2026Article
- Biomarker Discovery in Wilson's Disease-A Path Toward Improved Diagnosis and Management: A Comprehensive Review.Molecular neurobiology · 2025Review
- Minimal Criteria to Screen for Wilson Disease: A Delphi Consensus in the United States.International journal of hepatology · 2025Article
- Seven decades of clinical experience with Wilson's disease: Report from the national reference centre in Poland.European journal of neurology · 2024Article
- Late onset Wilson Disease with normal neuro-psychiatric status: A case report.Annals of medicine and surgery (2012) · 2022Article
- Wilson disease in Northern Portugal: a long-term follow-up study.Orphanet journal of rare diseases · 2022Article
- Wilson's Disease: An Update on the Diagnostic Workup and Management.Journal of clinical medicine · 2021Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease (WD) may present symptomatically at any age. There is great variability in the neurological symptoms present, in the clinical state of WD patients, and in the response to decoppering therapy. Early diagnosis and compliance with anti-copper therapy are essential. Here we present five different WD cases to illustrate different problems encountered during diagnosis and treatment. The first case demonstrates that decoppering therapy may be very effective even with severe neurological symptoms. In addition, we see the importance of family screening, especially among the proband's siblings. Case 2 shows that we must be very careful during diagnosis. In the reported family, WD was diagnosed in the father of the proband although her brother had liver pathology but not caused by WD. Other cases teach us that decoppering therapy with d-penicillamine must be introduced slowly because of the high risk of neurological deterioration, especially in patients with typical WD brain changes even without neurological signs. We also have to consider concomitant therapies in WD patients. Neuroleptics may cause exacerbation and should be used at a low dose and for the shortest period possible. A full consideration for the issues surrounding the diagnosis and treatment of WD can lead to optimised care with reduced risk of progression and disability.
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