La xanthomatose cérébrotendineuse (XCT) est une affection neurologique rare appartenant au groupe des neurolipidoses, caractérisées par accumulation anormale de lipides notamment dans le système nerveux central. Son expression clinique variable et trompeuse. Nous rapportons cas d’un patient présentant troubles psycho-comportementaux initiaux aboutissant diagnostic schizophrénie dont l’évolution...

Cerebrotendinous Xanthomatosis (CTX) is a rare recessively inherited disorder of bile acid synthesis caused by mutations in the sterol 27-hydroxylase gene (CYP27) located on human chromosome 2. The disease is characterized by tendon xanthomatosis, juvenile cataracts and progressive neurological dysfunction. Smith-LemliOpitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metab...

= Abstract =Cerebrotendinous xanthomatosis(CTX), a rare lipid storage disease with diverse neurologic manifestations has, to our knowledge, never been reported in Korea, The authors recently saw two Korean brothers with typical CTX. In the elder one, the clinical presentation included childhood epilepsy, dementia, cataracts, spastic ataxia, and multiple tendon tumefaction in chronological order...

CTX is a rare lipid-storage disease. Novel MRS findings from 3 patients, using a short TE, were the presence of lipid peaks at 0.9 and 1.3 ppm in the depth of the cerebellar hemisphere; this might represent an additional marker of disease that is CNS-specific and noninvasive. A decrease in NAA concentration was also detected and attributed to neuroaxonal damage. One patient presented an increas...