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Title: Cerebrotendinous xanthomatosis: a rare cause of bilateral Achilles tendon swelling and ataxia. A case report.
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
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.
DOI: 10.2106/JBJS.E.00872
PubMed URL:
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

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