Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis
Definition
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
Also known as cerebrotendinous xanthomatosis, cholestanol storage disease, CTX, sterol 27-hydroxylase deficiency — per MONDO