Cerebral Cholesterinosis (Cerebrotendinous Xanthomatosis; CTX) 737i89h 737i89h 737i89h 737i89h 737i89h 737i89h 737i89h 737i89h 737i89h 737i89h 737i89h 737i89h 223
General: Autosomal recessive; lipid storage characterized by progressive neurologic dysfunction; large amounts of cholestanol and cholesterol in every tissue in body, particularly in brain and lungs.
Ocular: Cataracts; juvenile cataracts.
Clinical: Cerebellar ataxia; systemic spinal cord involvement; atherosclerosis; mental retardation; unsteady gait; liver damage; jaundice; chronic diarrhea.
Berginer VM, et al. Long-term treatment of cerebrotendinous xanthomatosis with chemodioxycholic acid. N Engl J Med 1984; 311:1649-l652.
Cruysberg JR, et al. Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. Am J Ophthalmol 1991; 112:606-607.
Katy DA, et al. Peripheral neuropathy in cerebrotendinous xanthomatosis. Arch Neurol 1985; 42:1008-l010.
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