Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

Logo MUG-Forschungsportal

Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid

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 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Autor/innen der Med Uni Graz:
Beham Alfred
Emberger Werner
Leithner Andreas
Sourij Harald
Windhager Reinhard
Zacherl Maximilian
Altmetrics:

Dimensions Citations:

Plum Analytics:
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
© Meduni Graz Impressum