Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is a metabolic disease that is usually inherited autosomal recessive. The cerebrotendinous xanthomatosis belongs to the category of so-called leukodystrophies.

Cerebro-tendinous xanthomatosis is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood cataract, tendentious xanthomas and xanthomas of the brain occurring in adolescents or young adults with onset of neurological dysfunction in adulthood.