Bilateral Achilles Tendon Xanthomas in a Patient with Cerebrotendinous Xanthomatosis A Case Report

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KARAKAPLAN M., ERGEN E., Gormeli G., KORKMAZ M. F., Elmali N.

JOURNAL OF THE AMERICAN PODIATRIC MEDICAL ASSOCIATION, vol.107, no.1, pp.85-89, 2017 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 107 Issue: 1
• Publication Date: 2017
• Doi Number: 10.7547/15-085
• Journal Name: JOURNAL OF THE AMERICAN PODIATRIC MEDICAL ASSOCIATION
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.85-89
• Bezmialem Vakıf University Affiliated: Yes

Abstract

Cerebrotendinous xanthomatosis is a rare, autosomal recessive, lipid storage disease with accumulation of cholestanol in most tissues, particularly in the Achilles tendons. We described a 23-year-old female patient who had progressive painfull swelling of both Achilles tendons due to cerebrotendinous xanthomatosis. We performed surgery on both-side Achilles tendon tumors. Wide degenerative areas of the tendons were resected, and the flexor hallucis longus tendon was harvested and transferred to reconstruct motion function.