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


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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 107 Issue: 1
  • Publication Date: 2017
  • Doi Number: 10.7547/15-085
  • Title of Journal : JOURNAL OF THE AMERICAN PODIATRIC MEDICAL ASSOCIATION
  • Page Numbers: pp.85-89

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.