BIOMAT Database Logo BIOMAT Database Logo

Cerebrotendinous xanthomatosis presenting with bilateral achilles tendon xanthomata: a case report. 2013

Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Department of Orthopaedics and Traumatology, Vakif Gureba Research and Training Hospital, Istanbul, Turkey. cuneytmirzanli@yahoo.vom

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.

UI MeSH Term Description Entries
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000125 Achilles Tendon Tendon that connects the muscles in the back of the calf to the HEEL BONE. Calcaneal Tendon,Tendo Calcaneus,Calcaneal Tendons,Tendon, Achilles,Tendon, Calcaneal,Tendons, Calcaneal
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D055815 Young Adult A person between 19 and 24 years of age. Adult, Young,Adults, Young,Young Adults
D019294 Xanthomatosis, Cerebrotendinous An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms. Van Bogaert-Scherer-Epstein Disease,Cerebral Cholesterinosis,Cerebrotendinous Xanthomatosis,Bogaert-Scherer-Epstein Disease, Van,Cerebral Cholesterinoses,Cerebrotendinous Xanthomatoses,Disease, Van Bogaert-Scherer-Epstein,Van Bogaert Scherer Epstein Disease,Xanthomatoses, Cerebrotendinous

Related Publications

Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Cerebrotendinous xanthomatosis presenting with bilateral Achilles tendon xanthomata.
February 2007, Skeletal radiology,
Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Cerebrotendinous xanthomatosis: a rare cause of bilateral Achilles tendon swelling and ataxia. A case report.
June 2006, The Journal of bone and joint surgery. American volume,
Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report.
January 2021, Case reports in rheumatology,
Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Bilateral Achilles Tendon Xanthomas in a Patient with Cerebrotendinous XanthomatosisA Case Report.
January 2017, Journal of the American Podiatric Medical Association,
Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon].
July 2008, Der Orthopade,
Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report.
November 2023, World journal of psychiatry,
Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Treatment of Large Recurrent Bilateral Xanthomatosis of Achilles Tendon- A Case Report.
January 2015, Journal of orthopaedic case reports,
Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report.
November 2018, Clinical neurology and neurosurgery,
Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Cerebrotendinous xanthomatosis: a case report.
January 2007, Acta cytologica,
Cuneyt Mirzanli, and Cem Zeki Esenyel, and Kahraman Ozturk, and Alican Baris, and Yunus Imren
Cerebrotendinous xanthomatosis - A case report.
January 2019, The Indian journal of radiology & imaging,
Copied contents to your clipboard!