Van Bogaert-Scherer-Epstein syndrome

Introduction: Van Bogaert-Scherer-Epstein syndrome

Description of Van Bogaert-Scherer-Epstein syndrome

Van Bogaert-Scherer-Epstein syndrome (medical condition): A rare inherited condition where cholesterol is deposited in the brain and...more »

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Van Bogaert-Scherer-Epstein Disease:
  »Introduction: Van Bogaert-Scherer-Epstein Disease
  »Symptoms of Van Bogaert-Scherer-Epstein Disease
  »Causes of Van Bogaert-Scherer-Epstein Disease
  »Treatments for Van Bogaert-Scherer-Epstein Disease

Van Bogaert-Scherer-Epstein syndrome: 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

Van Bogaert-Scherer-Epstein syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for Van Bogaert-Scherer-Epstein syndrome:

• Van Bogaert
• Van Bogaert disease
• Epstein syndrome
• Van
• Epstein
• Epstein disease
• Lipid
• Lipid symptoms (40 causes)

Van Bogaert-Scherer-Epstein syndrome as a Disease

Van Bogaert-Scherer-Epstein syndrome: Another name for Van Bogaert-Scherer-Epstein Disease (or close medical condition association).
  »Introduction: Van Bogaert-Scherer-Epstein Disease
  »Symptoms of Van Bogaert-Scherer-Epstein Disease
  »Causes of Van Bogaert-Scherer-Epstein Disease
  »Treatments for Van Bogaert-Scherer-Epstein Disease

Van Bogaert-Scherer-Epstein syndrome: Related Diseases

Van Bogaert-Scherer-Epstein syndrome: Van Bogaert-Scherer-Epstein syndrome is listed as a type of (or associated with) the following medical conditions in our database:

• Metabolic conditions
• Genetic conditions
• Cholesterol metabolism conditions
• Lipid metabolism conditions

Causes of Van Bogaert-Scherer-Epstein syndrome

Some of the causes of Van Bogaert-Scherer-Epstein syndrome are included in the list below:

• The genetic condition is inherited in an autosomal recessive manner
• The condition is inherited in an autosomal recessive manner

Read more about causes of Van Bogaert-Scherer-Epstein syndrome (Van Bogaert-Scherer-Epstein Disease)

Symptoms of Van Bogaert-Scherer-Epstein syndrome (Van Bogaert-Scherer-Epstein Disease)

Some of the symptoms of Van Bogaert-Scherer-Epstein syndrome incude:

• Chronic diarrhea - during infancy
• Cataracts - late childhood onset
• Neurological problems - adulthood
• Cerebellar ataxia - progressive
• Speech problems

See full list of 21 symptoms of Van Bogaert-Scherer-Epstein syndrome (Van Bogaert-Scherer-Epstein Disease)

Treatments for Van Bogaert-Scherer-Epstein syndrome (Van Bogaert-Scherer-Epstein Disease)

Treatments for Van Bogaert-Scherer-Epstein syndrome (Van Bogaert-Scherer-Epstein Disease) include:

• Dietary changes: limit intake of foods containing cholestanol (butter, egg yolk and cheddar cheese)
• Medication: Administration of cholic acid, chenodeoxycholic acid; HMG-CoA reductase inhibitors may be needed in more difficult cases
• Cataracts may also require treatment

Read more about treatments for Van Bogaert-Scherer-Epstein syndrome

Treatment of Van Bogaert-Scherer-Epstein syndrome: For more treatment information about Van Bogaert-Scherer-Epstein syndrome, see treatment of Van Bogaert-Scherer-Epstein Disease (Van Bogaert-Scherer-Epstein syndrome)

Terms associated with Van Bogaert-Scherer-Epstein syndrome:

Terms Similar to Van Bogaert-Scherer-Epstein syndrome:

• Cholestanol storage disease
• Cerebral cholesterinosis
• Cerebrotendinous xanthomatosis
• Thiébaut's syndrome

Source: Diseases Database

External links related to: Van Bogaert-Scherer-Epstein syndrome

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

Source: Diseases Database

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