[Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment].
Cerebrotendinous xanthomatosis (CTX) is a rare, but treatable lipid storage disorder caused by mutation in the CYP27A1 gene. The disorder results in deposition of cholestanol in various tissues. The classical CTX phenotype includes diarrhoea, juvenile cataract, xanthoma and progressive neurological symptoms. Studies have shown that progression of symptoms can be halted or even reversed, if treatment with chenodeoxycholic acid is initiated early. The diagnosis of CTX is often delayed due to lack of awareness of the disease. We describe the history, clinical features, biochemical, genetic and magnetic resonance imaging findings of the first reported case of CTX in Denmark.
Neurologisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29,5000 Odense C, Denmark. morten.blaabjerg@ouh.regionsyddanmark.dk
Morten
M
Blaabjerg
Dragan
D
Marjanovic
D000328:Adult; D002635:Chenodeoxycholic Acid / Q000008:administration & dosage / Q000627:therapeutic use; D057210:Delayed Diagnosis; D005260:Female; D006801:Humans; D006888:Hydroxycholesterols / Q000097:blood; D008279:Magnetic Resonance Imaging / Q000379:methods; D010641:Phenotype; D035583:Rare Diseases; D016896:Treatment Outcome; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics
D006888:Hydroxycholesterols; D002635:Chenodeoxycholic Acid; C011724:cholest-5-en-3 beta,7 alpha-diol