title: An unusual cause of Achilles tendon xanthoma.
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.
authors: Department of Medical Biochemistry, Research Institute of McGill University Health Center (RI-MUHC), Centre for Translational Biology, Montreal, Quebec, Canada.
authors: Fabienne
authors: F
authors: Parente
authors: Department of Medical Biochemistry, Research Institute of McGill University Health Center (RI-MUHC), Centre for Translational Biology, Montreal, Quebec, Canada; Department of Experimental Medicine, McGill University, Montreal, Quebec, Canada.
authors: Matthew
authors: M
authors: Vesnaver
authors: Department of Neurology, Montreal Neurological Institute, McGill University Health Center (MUHC), Montreal, Quebec, Canada.
authors: Rami
authors: R
authors: Massie
authors: Department of Medical Biochemistry, Research Institute of McGill University Health Center (RI-MUHC), Centre for Translational Biology, Montreal, Quebec, Canada; Department of Experimental Medicine, McGill University, Montreal, Quebec, Canada; Hyperlipidemia and Atherosclerosis Research Group, Clinical Research Institute of Montreal (IRCM), Montreal, Quebec, Canada. Electronic address: alexis.baass@ircm.qc.ca.
authors: Alexis
authors: A
authors: Baass
mesh_terms: D000125:Achilles Tendon / Q000000981:diagnostic imaging; D000328:Adult; D006801:Humans; D008055:Lipids / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D014973:Xanthomatosis / Q000097:blood* / Q000000981:diagnostic imaging*
chemical_list: D008055:Lipids
keywords: CYP27A1; Cerebrotendinous xanthomatosis; Cholestanol; Sterol 27-hydroxylase; Xanthoma