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Cerebrotendinous xanthomatosis
S Bel1, V García-Patos, L Rodríguez
1Department of Dermatology, Hospitals Vall d'Hebron, Barcelona, Spain.
Journal of the American Academy of Dermatology
|July 21, 2001
Summary
Cerebrotendinous xanthomatosis (CTX) is a rare lipid disorder. Early diagnosis via tendon xanthomas and elevated urinary bile alcohols is key to managing CTX with chenodeoxycholic acid.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease.
- It results from mutations in the sterol 27-hydroxylase gene, leading to cholestanol accumulation.
- Diagnosis relies on identifying elevated urinary bile alcohols.
Observation:
- A 55-year-old woman presented with progressive paraparesis, subcutaneous knee tumors, juvenile cataracts, and mental retardation.
- Histopathology confirmed tendinous xanthomas.
- Elevated urinary bile alcohols supported the CTX diagnosis.
Findings:
- The patient was treated with oral chenodeoxycholic acid.
- Treatment resulted in mild improvement of spasticity.
- This case highlights the diagnostic markers and therapeutic approach for CTX.
Implications:
- Early recognition of tendon xanthomas and neurological symptoms or cataracts is crucial for timely CTX diagnosis.
- Prompt treatment with chenodeoxycholic acid can help arrest disease progression.
- Early intervention may prevent irreversible neurological damage in patients with CTX.