Table 1.

Summary table for Cerebrotendinous Xanthomatosis

Etiology	Autosomal recessive genetic disorder
Incidence	Rare, 300 cases reported worldwide
Gender ratio	M:F–1:1
Age predilection	10–20 years
Risk factors	Genetic
Genetic defect	Mutations in the CYP27A1 gene
Enzyme defect	Hepatic mitochondrial enzyme sterol 27-hydroxylase
Pathophysiology	Accumulation of cholesterol and its by-product, cholestanol
Treatment	Replacement therapy with chenodeoxycholic acid
Prognosis	Good with early replacement therapy before neurological impairment
Prognosis if not diagnosed early	Progressive incapacitation and mental deterioration with pseudo bulbar palsies. Vascular abnormalities such as premature atherosclerosis can lead to stroke and myocardial infarction.
Imaging findings	T2W hyperintense lesions in the dentate nucleus, substantia nigra, globus pallidus and the presence of tendon xanthomas