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An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis
Mariya Levkova1,2, Mari Hachmeriyan1,2, Margarita Grudkova3
1Department of Medical Genetics, Medical University Varna, Marin Drinov Str. 55, 9000 Varna, Bulgaria.
Reports (MDPI)
|July 25, 2025
Summary
Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder causing cholesterol buildup. Early recognition of its diverse symptoms is crucial for timely diagnosis and improved patient outcomes in neurogenetic conditions.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder.
- It results from mutations in the CYP27A1 gene, impairing bile acid synthesis and causing cholesterol deposition.
- CTX affects multiple organ systems, including the central nervous system and tendons, leading to varied clinical presentations.
Observation:
- A 37-year-old male presented with progressive muscle weakness, cognitive decline, epilepsy, and Achilles tendon xanthomas.
- Past medical history included childhood bilateral cataract surgery.
- Clinical diagnosis of CTX was suspected based on these manifestations.
Findings:
- Genetic sequencing confirmed a homozygous pathogenic variant in the CYP27A1 gene.
- This genetic finding validated the clinical diagnosis of Cerebrotendinous xanthomatosis.
- Chenodeoxycholic acid (CDCA) therapy was unavailable, necessitating symptomatic management.
Implications:
- This case highlights the diagnostic challenges and prolonged diagnostic journeys for patients with rare neurogenetic disorders like CTX.
- Increased awareness and early identification of CTX are essential for improving patient outcomes.
- Timely diagnosis can facilitate appropriate management, even when specific therapies are inaccessible.
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