Cerebrotendinous xanthomatosis
Rare bile acid disorder causing neurological issues, cataracts, and tendon xanthomas.
Last updated
Cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is a rare inborn bile acid metabolism disorder caused by autosomal-recessive mutations in the CYP27A1 gene. It is notable for producing a wide range of neurological and non-neurological symptoms, with an average age of symptom onset of 19 years. The condition leads to tissue accumulation of cholestanol and bile alcohol, affecting multiple organ systems.
Quick Facts
- Inheritance
- autosomal-recessive
- Gene
- CYP27A1
- Preferred treatment
- chenodeoxycholic acid (CDCA) 750 mg/d
Facts from the source article.
Signs and symptoms
Central nervous system symptoms often appear first in CTX, including Parkinsonism, epilepsy, dystonia, progressive ataxia, palatal myoclonus, intellectual disability, dementia, and psychiatric symptoms such as behavioral changes, depression, agitation, hallucinations, and suicidal thoughts. Cataracts developing in childhood are a common early indicator, frequently preceding neurological symptoms and tendon xanthoma. Adults may also have optic disk paleness, cholesterol-like deposits, and retinal vessel sclerosis.
Cardiovascular disease and premature atherosclerosis occur despite normal serum cholesterol levels, with elevated 27-hydroxycholesterol and decreased high-density lipoprotein cholesterol. Osteoporosis and recurrent bone fractures are frequent, worsened by gait abnormalities and low bone mass; serum calcium, phosphate, and vitamin D metabolites remain normal, but intestinal radiocalcium absorption is reduced. Chronic intractable diarrhea is common, and some patients develop gallstones, cholecystic polypus, or newborn cholestatic jaundice. Xanthomas typically appear in the second or third decade of life on various tendons.
Diagnosis
Diagnosis of CTX relies on molecular genetic analysis, neuroimaging, biochemical testing, and clinical findings. It should be considered when patients present with neurological symptoms beginning in childhood along with xanthomas. Biochemical abnormalities include elevated plasma cholestanol, increased bile alcohol levels in urine, and decreased biliary concentration of chenodeoxycholic acid; a raised plasma cholestanol level is characteristic.
More in Skin Conditions Resulting from Errors in Metabolism
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Cerebrotendinous xanthomatosis (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
Spotted an error? Know more?
Reader corrections go straight into our review queue. Suggest an edit · How this site is sourced