Early-onset cataracts can be an important early warning sign of cerebrotendinous xanthomatosis, and recognizing this symptom promptly may lead to earlier diagnosis and treatment, potentially preventing years of disease progression, according to a recent case report.
In the report, a 37-year-old man in Bulgaria had a medical history including childhood cataract surgery, cognitive decline, epilepsy, and tendon swellings in both Achilles tendons, later confirmed as xanthomas. His symptoms had progressed over many years before genetic testing identified a homozygous pathogenic variant responsible for cerebrotendinous xanthomatosis.
Due to the unavailability of the standard treatment, chenodeoxycholic acid, in Bulgaria, the patient received only symptomatic care.
Reference
Levkova M, Hachmeriyan M, Grudkova M, Tsalta-Mladenov M, Kaprelyan A. An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis. Reports (MDPI). 2025 May 22;8(2):77. doi: 10.3390/reports8020077. PMID: 40710868; PMCID: PMC12196618.
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