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Cerebrotendinous Xanthomatosis Treatment & Management

  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
 
Updated: May 12, 2015
 

Medical Care

Early diagnosis of cerebrotendinous xanthomatosis is imperative because it is a treatable disease. This early diagnosis depends on recognition of early signs and symptoms, specifically the combination of diarrhea and cataracts along with personal or family history of infantile hepatitis, prolonged jaundice, or early infantile death.

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Surgical Care

Cataract repair may be indicated. Surgical xanthoma removal is not recommended.

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Consultations

Consultation with the following may be indicated:

  • Gastroenterologist
  • Ophthalmologist
  • Metabolic and genetic disease specialist
  • Developmental specialist
  • Neurologist
  • Orthopedist
  • Cardiologist
  • Lipid disorder specialist
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Diet

A diet low in cholestanol containing foods (eg, egg yolk, butter, cheddar cheese) can significantly reduce plasma cholestanol and cholesterol levels; however, true clinical benefit is not seen unless pharmacologic therapy is also started. Dietary restriction is probably not necessary if pharmacologic treatment is commenced (see below).

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Contributor Information and Disclosures
Author

Robert D Steiner, MD Chief Medical Officer, Acer Therapeutics; Clinical Professor, University of Wisconsin School of Medicine and Public Health

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Acer Therapeutics; Retrophin; Raptor Pharma; Veritas Genetics; Censa Pharma<br/>Received income in an amount equal to or greater than $250 from: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma.

Coauthor(s)

Peter R Baker, II, MD, FAAP, FACMG Assistant Professor, Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine

Peter R Baker, II, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, Society for Inherited Metabolic Disorders

Disclosure: Nothing to disclose.

Andrea E DeBarber, PhD Research Assistant Professor, Department of Physiology and Pharmacology, Associate Director, Bioanalytical Shared Resource Facility, Oregon Health and Science University; Director, Bioanalytical MS Facility, Portland State University

Andrea E DeBarber, PhD is a member of the following medical societies: American Chemical Society, American Society for Mass Spectrometry

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Acknowledgements

The authors would like to thank Matthias C. Kurth, MD, PhD, for review of the manuscript.

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Sixteen-year-old male with cerebrotendinous xanthomatosis. Note the xanthomas on his knuckles.
Sixteen-year-old male with cerebrotendinous xanthomatosis.
Xanthomas of the Achilles tendon. Photo courtesy of William Connor, MD, Oregon Health and Science University.
Xanthomas on the knees in a patient with cerebrotendinous xanthomatosis. Photo courtesy of William Connor, MD, Oregon Health and Science University.
 
 
 
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