Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition
2025
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition
Sample size: 1
publication
Evidence: low
Author Information
Author(s): Emily O'Keefe, Matthew Kiernan, William Huynh
Primary Institution: Department of Neurology, Gosford Hospital
Conclusion
The case highlights the diagnostic challenges of cerebrotendinous xanthomatosis due to its rarity and clinical variability.
Supporting Evidence
- The patient had a 25-year history of spastic paraparesis before being diagnosed with CTX.
- Genetic testing revealed a novel variant in the CYP27A1 gene.
- Treatment with chenodeoxycholic acid stabilized her condition over 3 years.
Takeaway
This study is about a woman who had a rare disease that was hard to diagnose because it looked like other conditions, but doctors eventually figured it out and helped her feel better.
Methodology
The case report details the patient's clinical history, diagnostic challenges, genetic testing, and treatment response.
Limitations
The study is based on a single case, which may limit the generalizability of the findings.
Participant Demographics
A 53-year-old Greek woman.
Digital Object Identifier (DOI)
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