Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder of bile acid synthesis caused by pathogenic variants in the *CYP27A1* gene

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder of bile acid synthesis caused by pathogenic variants in the *CYP27A1* gene This genetic defect leads to a deficiency in the mitochondrial enzyme sterol 27-hydroxylase, impairing primary bile acid production and driving systemic accumulation of cholestanol and cholesterol

This genetic defect leads to a deficiency in the mitochondrial enzyme sterol 27-hydroxylase, impairing primary bile acid production and driving systemic accumulation of cholestanol and cholesterol

The disease primarily affects the central nervous system, eyes, gastrointestinal tract, and musculoskeletal structures, classically manifesting with infantile-onset chronic diarrhea, juvenile-onset bilateral cataracts, and tendon xanthomas typically involving the Achilles tendon

The disease primarily affects the central nervous system, eyes, gastrointestinal tract, and musculoskeletal structures, classically manifesting with infantile-onset chronic diarrhea, juvenile-onset bilateral cataracts, and tendon xanthomas typically involving the Achilles tendon Progressive pathophysiologic accumulation leads to severe adult-onset neurologic deterioration, characterized by ataxia, spasticity, peripheral neuropathy, dystonia, psychiatric disturbances, and cognitive decline

Progressive pathophysiologic accumulation leads to severe adult-onset neurologic deterioration, characterized by ataxia, spasticity, peripheral neuropathy, dystonia, psychiatric disturbances, and cognitive decline