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An unusual cause of Achilles tendon xanthoma
Affiliation:1. Department of Medical Biochemistry, Research Institute of McGill University Health Center (RI-MUHC), Centre for Translational Biology, Montreal, Quebec, Canada;2. Department of Experimental Medicine, McGill University, Montreal, Quebec, Canada;3. Department of Neurology, Montreal Neurological Institute, McGill University Health Center (MUHC), Montreal, Quebec, Canada;4. Hyperlipidemia and Atherosclerosis Research Group, Clinical Research Institute of Montreal (IRCM), Montreal, Quebec, Canada;1. Division of Endocrinology and Diabetes, The Children''s Hospital of Philadelphia, Philadelphia, PA, USA;2. Nemours Cardiac Center, A. I. DuPont Hospital for Children, Wilmington, DE, USA;3. Division of Gastroenterology, Hepatology, and Nutrition, The Children''s Hospital of Philadelphia, Philadelphia, PA, USA;4. Division of Endocrinology and Diabetes, Center for Translational Science, Children''s National Health System, Washington, DC, USA;1. Lipid Clinic Heart Institute (InCor) University of Sao Paulo, Medical School Hospital, Sao Paulo, Brazil;2. Preventive Medicine Center, Hospital Israelita Albert Einstein, Sao Paulo, Brazil;3. Centro de Pesquisa Clínica e Epidemiológica do Hospital Universitário, University of Sao Paulo Medical School, Sao Paulo, Brazil;1. Biomarkers Research Program Biochemistry Department, College of Science, King Saud University, Riyadh, Saudi Arabia;2. Department of Biochemistry, Prince Mutaib Bin Abdullah Chair for Biomarkers Research on Osteoporosis, King Saud University, Riyadh, Saudi Arabia;3. King Abdulaziz Medical City, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia;4. Diabetes Centers and Units Administration, Ministry of Health, Riyadh, Saudi Arabia;5. Department of Food Science and Nutrition, College of Food Science and Agriculture, King Saud University, Riyadh, Saudi Arabia;6. First Department of Pediatrics, Athens University Medical School, Athens, Greece;1. Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Duke University Medical Center, Durham, NC, USA;2. Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Durham Veterans Affairs Medical Center, Durham, NC, USA;3. Dow International Medical College, Karachi, Pakistan;4. Department of Medicine, University of Pittsburgh Medical Center-Mercy Hospital, Pittsburgh, PA, USA;5. Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC, USA;1. Vuk Vrhovac Clinic for Diabetes, Endocrinology and Metabolic Diseases, Merkur University Hospital, Zagreb, Croatia;2. School of Medicine, University of Zagreb, Zagreb, Croatia;1. Department of Pathology and Laboratory Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA;2. Department of Nephrology, University of Groningen and University Medical Center Groningen, The Netherlands;3. Department of Endocrinology, University of Groningen and University Medical Center Groningen, The Netherlands
Abstract:Tendinous xanthomas are often thought to be pathognomonic for familial hypercholesterolemia. In this report, we present the case of a young man with a normal lipid profile and Achilles tendon xanthoma. Biochemical and genetic studies confirmed the diagnosis of cerebrotendinous xanthomatosis in this patient. Cerebrotendinous xanthomatosis is a rare autosomal recessive disease associated with xanthoma in tendons and the brain as well as progressive neurologic deficits. Unfortunately, this rare form of reversible dementia is thought to be underdiagnosed. Early diagnosis and treatment of this disease with chenodeoxycholic acid is essential and has been shown to greatly improve the patient's symptoms and prognosis.
Keywords:Cerebrotendinous xanthomatosis  Xanthoma  Cholestanol  CYP27A1  Sterol 27-hydroxylase
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