Abstract
CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27- sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholic acid (CDCA), a primary bile acid. Abnormal bile acid synthesis leads to elevated plasma Cholestanol (a derivative of cholesterol) accumulation, especially in the lens, central nervous system (CNS) and tendons.
Highlights
CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholic acid (CDCA), a primary bile acid
Abnormal bile acid synthesis leads to elevated plasma Cholestanol accumulation, especially in the lens, central nervous system (CNS) and tendons
Serum enzyme studies confirmed the diagnosis of Cerebrotendinous Xanthomatosis (CTX)
Summary
CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholic acid (CDCA), a primary bile acid. Abnormal bile acid synthesis leads to elevated plasma Cholestanol (a derivative of cholesterol) accumulation, especially in the lens, central nervous system (CNS) and tendons. Positive Babinski sign, vibratory sensory loss, bilateral pes cavus, arched feet, hammer toes, valgus deformity of the ankles, atrophic changes of the calves and thighs, Achilles tendon nodules and bilateral cataracts. EMG findings were compatible with peripheral neuropathy.
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