Please use this identifier to cite or link to this item:
http://hdl.handle.net/11434/952
Title: | Cerebrotendinous xanthomatosis: a rare cause of bilateral Achilles tendon swelling and ataxia. A case report. |
Epworth Authors: | Beischer, Andrew |
Other Authors: | Brodsky, James East, Cara Soltero, Elizabeth Tint, Stephen Salen, Gerald Silverman, Julie |
Keywords: | Achilles Tendon Cerebrotendinous Xanthomatosis Lipid-Storage Disease Sterol 27-hydroxylase Gene CYP27 Gene Painful Swelling Ataxic Gait Xanthomas Progressive Neurological Dysfunction Cerebellar Ataxia Ankle Deformity Lipid Metabolism Musculoskeletal Clinical Institute, Epworth HealthCare, Victoria, Australia |
Issue Date: | Jun-2006 |
Publisher: | The Journal of Bone & Joint Surgery Inc. |
Citation: | J Bone Joint Surg Am. 2006 Jun;88(6):1340-4. |
Abstract: | Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by a mutation in the sterol 27-hydroxylase (CYP27) gene1,2. It is important that orthopaedic surgeons be aware of this condition because the initial presentation may be symmetric, painful enlargement and deformity of the Achilles tendons. Early diagnosis is the key to treatment because medical therapy is effective in halting progression of, although not reversing, the devastating neurological lesions of this condition. |
URI: | http://hdl.handle.net/11434/952 |
DOI: | 10.2106/JBJS.E.00872 |
PubMed URL: | https://www.ncbi.nlm.nih.gov/pubmed/16757769 |
ISSN: | 1535-1386 |
Journal Title: | The Journal of Bone & Joint Surgery |
Type: | Journal Article |
Affiliated Organisations: | Baylor University Medical Center, 411 North Washington Avenue, Dallas, Texas, USA. Clinical Cardiovascular Research Center, 3600 Gaston Avenue, Dallas, Texas, USA. Department of Medicine, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, New Jersey, USA Victorian Orthopaedic Foot & Ankle Clinic, Richmond, Victoria, Australia |
Type of Clinical Study or Trial: | Case Reports |
Appears in Collections: | Musculoskeletal |
Files in This Item:
There are no files associated with this item.
Items in Epworth are protected by copyright, with all rights reserved, unless otherwise indicated.