due to a efective enzyme in bile acid synthesis pathway with deposition of cholestanol and cholesterol in brain, tendons, soft tissues and eyes leading to cerebellar dysfunction, early cataract formation, tendon, and soft tissue xanthomas
the disease is potentially treatable with chenodeoxycholic acid
CTX is characterized by defective sterol 27-hydroxylase enzyme which is responsible for conversion of cholesterol into bile acids (cholic and chenodeoxycholic acid)
diagnosis is by the characteristic combination of neurological, ocular and musculoskeletal symptoms supplemented by neuroimaging and biochemical results
early diagnosis and treatment is essential to prevent the neurological sequelae of the disease
treatment consists of chenodeoxycholic acid which suppresses the formation of cholestanol
Reference:
Bjorkhem I. Cerebrotendinous xanthomatosis. Curr Opin Lipidol. 2013;24:283-287.
Lionnet C et al. Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects. Rev Neurol (Paris). Jun-Jul 2014;170(6-7):445-53.
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