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