A lipid storage disease, inherited as an autosomal recessive trait, characterized by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves. The lesions contain cholesterol and dehydrocholesterol. (Dorland, 28th ed)
medical
dictionary, online medical dictionary, medical
terminology dictionary, free online medical
dictionary, medical dictionary, online medical
dictionary, medical terminology dictionary, free
online medical dictionary, dictionary medical,
dictionary medical online, dictionary medical
terminology, dictionary free medical online,
dictionary free medical, dictionary medical
terms, dictionary drug medical medicine,
dictionary health illustrated medical nursing
profession stedmans, dictionary English medical,
dictionary medical online terminology,
dictionary encyclopedia medical online,
condition dictionary medical, dictionary
medical, dictionary drug medical, medical
dictionary software, cyclopedic dictionary index
medical tabers thumb, medical dictionary, online
medical dictionary, medical terminology
dictionary
