Cerebrotendinous xanthomatosis:a case report.
BACKGROUND: Cerebrotendinous xanthomatosis is a rare, autosomal recessive,inherited lipid storage disease characterized by accumulation of cholestanol and cholesterol in mosttissues. The disease is caused by mutations in the sterol 27-hydroxylase gene, leading to a blockin bile synthesis, with accumulation of substrates for this enzyme, including cholesterol, resultingin an increase in the conversion of cholesterol to cholestanol. CASE: A 26-year-old woman presentedwith gradually increasing bilateral ankle swelling. She had a history of bilateral cataracts andleft-sided hemiparesis. She had mental retardation, with a history of delayed milestone development.Her serum cholesterol levels were elevated. Aspiration of both ankle swellings revealed histiocytesand many foreign body giant cells. There were numerous rectangular to rhomboid crystals in thebackground. CONCLUSION: Very few articles are available on the cytologic features of tendinousxanthomas; hence we tried to highlight these features.
Srinivas,BH　Patnayak,R　Rao,IS　Prayaga,A　Khan,AK　Narasimhlu,G
Department of Pathology, Nizam’s Institute of Medical Sciences, Hyderabad,Andhra Pradesh, India.
Xanthomatosis, Cerebrotendinous　 Cholesterol brief historical notes,excludes case histories
