About The Medical Condition Van Bogaert-Scherer-Epstein Disease
Find the definition of the medical term Van Bogaert-Scherer-Epstein Disease. Van Bogaert-Scherer-Epstein Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Van Bogaert-Scherer-Epstein Disease
| Van Bogaert-Scherer-Epstein Disease Medical Condition |
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What's The Definition Of The Medical Condition Van Bogaert-Scherer-Epstein Disease?
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)
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