Cerebrotendinous xanthomatosis
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A young adult with intellectual disability has bilateral cataracts and progressive ataxia. MRI shows white matter abnormalities. Serum cholestanol is elevated.
AR; CYP27A1 (sterol 27-hydroxylase)
- Defective bile acid synthesis → cholestanol accumulation
- Juvenile cataracts (often first sign)
- Progressive neurological dysfunction (ataxia, dementia, spasticity)
- Tendon xanthomas
- Chronic diarrhea (childhood)
- Treatable if diagnosed early
- Elevated serum cholestanol; genetic testing
- Chenodeoxycholic acid (bile acid replacement) - prevents progression if started early
CTX = Cataracts + Tendon Xanthomas: the two hallmark findings, derived directly from the abbreviation.
"CanT Xcrete bile acids": CTX is a bile acid synthesis defect (CYP27A1). Cholesterol and cholestanol accumulate in brain ("cerebro-") and tendons ("-tendinous").