Yourlocation: Home > News > Early diagnosis of patients with cerebrotendinous xanthomatosis benefit from chenodeoxycholic acid replacement therapy
Cerebrotendinous xanthomatosis (CTX) is a very rare autosomal recessive genetic disease. It is characterized by the accumulation of cholesterol and cholesterol in various tissues, mainly in the central nervous system and in the liver, lungs and kidneys. The main clinical features of the disease is chronic diarrhea, juvenile cataract, tendon yellow tumor, and developed into cerebellar ataxia and mental retardation. Early diagnosis is very important because patients benefit from chenodeoxycholic acid replacement therapy. The pathogenic gene CYP27A1 was localized to chromosome 2 long arm (2q33-qter). CYP27A1 mutations caused by steroid-27 hydroxylase activity is lacking, cholic acid synthesis disorders lead to increased cholesterol and cholesteric products, deposition in the brain, tendon tissue leading to disease.
MRI features of adult tendon yellow tumor disease: bilateral dentate nucleus, cerebellar white matter, brain feet, pyramidal tract, ventricle white matter, the corpus callosum can be seen T2WI high signal; more visible brain damage disease mild white matter lesions.

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