[en] Cerebrotendinous xanthomatosis (CTX) is a rare and treatable autosomal recessive disease. The diagnosis should be suspected in the presence of a suggestive clinical triad characterized by early-onset cataract, tendinous xanthomata and neurological symptoms and signs, notably cerebellar ataxia, mental retardation and pyramidal syndrome.The diagnosis is confirmed by demonstrating an increased blood level of cholestanol, or/and by molecular genetic analysis.In typical cases, brain MRI shows bilateral hyperintensity of the cerebellar nucleus dentatus together with cerebral atrophy and leukoencephalopathy. The treatment is based on the administration of chenodeoxycholic acid. The aim is to restore the negative feedback on the enzymatic cascade altered by mutation in the gene CYP27 which induces a 27-hydroxylase deficiency
Disciplines :
Radiology, nuclear medicine & imaging
Author, co-author :
DELSTANCHE, Stéphanie ; Centre Hospitalier Universitaire de Liège - CHU > Centre de références des Maladies Neuromusculaires > Service de neurologie
Deflandre, T.
Otto, B.
TSHIBANDA, Luaba ; Centre Hospitalier Universitaire de Liège - CHU > Service médical de radiodiagnostic
SIMONI, Paolo ; Centre Hospitalier Universitaire de Liège - CHU > Service médical de radiodiagnostic
Moonen, Gustave ; Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques
Language :
French
Title :
La xanthomatose cérébro-tendineuse, une maladie métabolique rare, grave mais curable
Alternative titles :
[en] Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder
Publication date :
13 June 2013
Journal title :
Revue Médicale de Liège
ISSN :
0370-629X
eISSN :
2566-1566
Publisher :
Université de Liège. Revue Médicale de Liège, Liège, Belgium
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