title: [Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon].
abstract: Cerebrotendinous xanthomatosis is a rare hereditary lipid storage disease characterised by deposits of cholestanol. In a female patient with bilateral swelling of the Achilles tendon who underwent biopsy, cerebrotendinous xanthomatosis was confirmed by combining disease patterns. She suffered from ataxia, depression, epilepsy, reduced intelligence, bilateral cataracts, gallstones, and atherosclerosis. Concentration of serum cholestanol was 10 times higher than normal. As causal therapy, ursodeoxycholic acid and statin drugs were prescribed to halt progression.
authors.affiliation: Universitätsklinik für Orthopädie, Medizinische Universität, Graz. max_zacherl@hotmail.com
authors.forename: M
authors.initials: M
authors.lastname: Zacherl
authors.forename: H
authors.initials: H
authors.lastname: Sourij
authors.forename: A
authors.initials: A
authors.lastname: Beham
authors.forename: W
authors.initials: W
authors.lastname: Emberger
authors.forename: A
authors.initials: A
authors.lastname: Leithner
authors.forename: W
authors.initials: W
authors.lastname: Windhager
mesh_terms: D000125:Achilles Tendon / Q000187:drug effects / Q000473:pathology*; D000893:Anti-Inflammatory Agents / Q000008:administration & dosage; D004487:Edema / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D052256:Tendinopathy / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D016896:Treatment Outcome; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D000893:Anti-Inflammatory Agents