Cerebrotendinous xanthomatosis

Last revised by Rohit Sharma on 28 Feb 2024

Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis.

The clinical presentation is highly variable with many potential neurological and other/systemic clinical features 6.

It is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis, which results in β-cholestanol accumulation in various tissues.

On biochemical studies, the presence of normal or low cholesterol in association with raised cholestanol levels is characteristic.

Imaging reveals characteristic neuroradiological findings in most patients, but can also reveal evidence of tendon xanthomas (e.g. of bilateral Achilles tendons) and other non-neurological manifestations.

Common neuroimaging findings include 1-6:

  • cerebral and cerebellar atrophy

  • T2 hyperintensities affecting the dentate nuclei (characteristic finding), basal ganglia, cerebral peduncles, cerebellar white matter, and periventricular white matter

    • lesions, particular in the dentate nucleus, may have a T2 hypotintense rim and may have regions of microcalcification

Spinal cord involvement is rare, but can include high T2 signal affecting the lateral corticospinal tracts and dorsal columns 8.

Cerebrotendinous xanthomatosis is a treatable condition. Medical therapy is primarily with chenodeoxycholic acid (CDCA) 6.

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