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Related Experiment Videos

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
PubMed
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.

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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.

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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.