cerebrotendinous xanthomatosis

Cerebrotendineous xanthomatosis

Cerebrotendineous xanthomatosis (or cerebrotendinous xanthomatosis, with one fewer 'e', or cerebrotendinous cholesterosis) is a form of xanthomatosis.

Causes

It is autosomal recessive, and associated with the CYP27A1 gene on chromosome 2.

Presentation

An inherited disorder associated with the deposition of a form of cholesterol in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataracts, and tendineous or tuberous xanthomas.

Eponym

It is also known as "Van Bogaert-Scherer-Epstein syndrome".

References

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