Cerebrotendinous Xanthomatosis

Cerebrotendinous Xanthomatosis


Cerebrotendinous xanthomatosis also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis.It falls within a group of genetic disorders called the leukodystrophies. People with this disorder cannot break down cholesterol, so fat form fatty yellow nodules called xanthomas, that accumulate in the body, especially in the brain and the tendons that attach muscle to bone


The presentation of Cerebrotendinous Xanthomatosis is highly variable and is associated with a wide range of symptoms.


CTX is associated with mutations in the CYP27A1 gene



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Last Updated on 17 May 2021