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Cerebrotendinous xanthomatosis: a case report.

Bheemanathi Hanuman Srinivas1, Rashmi Patnayak, Immaneni Satish Rao

  • 1Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India.

Acta Cytologica
|August 28, 2007
PubMed
Summary

Cerebrotendinous xanthomatosis (CTX) is a rare lipid disorder causing cholestanol accumulation. This case highlights the cytologic features of tendinous xanthomas in a patient with CTX.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pathology

Background:

  • Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inherited lipid storage disease.
  • Characterized by cholestanol and cholesterol accumulation due to mutations in the sterol 27-hydroxylase gene.
  • Leads to impaired bile synthesis and increased cholesterol conversion to cholestanol.

Observation:

  • A 26-year-old woman presented with bilateral ankle swelling, cataracts, and hemiparesis.
  • She exhibited mental retardation and delayed developmental milestones.
  • Elevated serum cholesterol levels were noted.

Findings:

  • Ankle swelling aspiration revealed histiocytes and foreign body giant cells.
  • Numerous rectangular to rhomboid crystals were observed in the aspirate.
  • These cytologic findings are characteristic of tendinous xanthomas.

Implications:

  • This case emphasizes the cytologic features of tendinous xanthomas in CTX.
  • Increased awareness of these features can aid in diagnosing this rare condition.
  • Highlights the importance of recognizing lipid accumulation disorders.