Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Zacherl, M; Sourij, H; Beham, A; Emberger, W; Leithner, A; Windhager, W.
Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon
Orthopade. 2008; 37(7):704-708
Doi: 10.1007/s00132-008-1275-8
(- Case Report)
Web of Science
PubMed
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- Führende Autor*innen der Med Uni Graz
- Zacherl Maximilian
- Co-Autor*innen der Med Uni Graz
- Beham Alfred
- Emberger Werner
- Leithner Andreas
- Sourij Harald
- Windhager Reinhard
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Achilles Tendon - drug effects
- Anti-Inflammatory Agents - administration and dosage
- Edema - diagnosis
- Female -
- Humans -
- Middle Aged -
- Tendinopathy - diagnosis
- Treatment Outcome -
- Xanthomatosis, Cerebrotendinous - complications
- Find related publications in this database (Keywords)
- cerebrotendinous xanthomatosis
- swelling of Achilles tendon
- ataxia
- cataract
- hereditary