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Cerebrotendinous Xanthomatosis Presenting with Bilateral Achilles Tendon Xanthomata

A Case Report

Cuneyt Mirzanli Department of Orthopaedics and Traumatology, Vakif Gureba Research and Training Hospital, Istanbul, Turkey.

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Cem Zeki Esenyel Department of Orthopaedics and Traumatology, Vakif Gureba Research and Training Hospital, Istanbul, Turkey.

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Kahraman Ozturk Department of Orthopaedics and Traumatology, Vakif Gureba Research and Training Hospital, Istanbul, Turkey.

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Alican Baris Department of Orthopaedics and Traumatology, Vakif Gureba Research and Training Hospital, Istanbul, Turkey.

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Yunus Imren Department of Orthopaedics and Traumatology, Vakif Gureba Research and Training Hospital, Istanbul, Turkey.

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Xanthomas are described as deposits in the skin and subcutaneous tissues. Mostly known as pseudotumors, xanthomas consist of connective tissue containing mainly cholesterol, triglycerides, and numerous foamy macrophages. Bilateral Achilles tendon xanthomata is pathognomonic for cerebrotendinous xanthomatosis in the case of normal cholesterol levels but increased cholestanol levels in serum. In this article, we present findings regarding bilateral xanthomas of Achilles tendons in a patient with cerebrotendinous xanthomatosis. (J Am Podiatr Med Assoc 103(2): 152–155, 2013)

Corresponding author: Cuneyt Mirzanli, MD, Department of Orthopaedics and Traumatology, Vakif Gureba Research and Training Hospital, Adnan Menderes Bulvari, Fatih, Istanbul, 34093, Turkey. (E-mail: cuneytmirzanli@yahoo.com)