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 (SCI-Expanded) identifier identifier identifier


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.