Cholestanol storage disease

Introduction: Cholestanol storage disease

Description of Cholestanol storage disease

Cholestanol storage 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)
Source: Diseases Database

Cholestanol storage disease: Related Topics

These medical condition or symptom topics may be relevant to medical information for Cholestanol storage disease:

• Storage disease
• Cholestanol
• Storage
• Lipid
• Lipid symptoms (40 causes)
• Lipid disorder
• Inherited
• Inherited disease

Terms associated with Cholestanol storage disease:

Terms Similar to Cholestanol storage disease:

• Cerebral cholesterinosis
• Cerebrotendinous xanthomatosis
• Thiébaut's syndrome
• van Bogaert-Scherer-Epstein syndrome

Source: Diseases Database

External links related to: Cholestanol storage disease

• GeneReviews: Cerebrotendinous Xanthomatosis
• OMIM - CEREBROTENDINOUS XANTHOMATOSIS
• Van Bogaert-Scherer-Epstein syndrome (www.whonamedit.com)

Source: Diseases Database

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