Cerebrotendinous xanthomatosis:a case report and literatures review
Cerebrotendinous xanthomatosis also known as cholesterolosis,is an autosomal recessive lipid deposition disease that is relatively rare and mostly caused by a deficiency of the mitochondrial enzyme cholesterol 27 hydroxylase.The disease occurs all over the world,mainly in Italy,the Netherlands and Israel.The incidence rate of the disease is relatively high in Morocco and Jews.The incidence rate of the disease in China is low and there are large individual differences.The main manifestations of the disease are xanthoma of the Achilles tendon,progressive ataxia,cataract and dementia.In view of this,this article collects and analyzes clinical data of a patient with cerebrotendinous xanthomatosis,and combines relevant liter-ature to analyze its clinical manifestations,laboratory examinations and imaging features.Combined with the patient's clini-cal manifestations and imaging diagnosis,a deep exploration of cerebrotendinous xanthomatosis is earried out to improve ac-curate understanding of the disease and provide effective reference basis for its diagnosis and treatment.
Cerebrotendinous xanthomatosisMagnetic resonance imagingDiagnosisBilateral Achilles tendon surgery
万方数据
维普
