摘要
脑腱黄瘤病又被称为胆甾烷醇增多症,属于常染色体隐性遗传脂质沉积病,该疾病相对罕见,大多是因线粒体酶胆固醇27-羟化酶缺乏而引起的。该疾病在世界各地均有发生,主要集中于意大利、荷兰和以色列等地,在摩洛哥和犹太人中的发病率相对较高,该疾病在我国的发病率较低且存在较大的个体差异,以跟腱黄瘤、进行性共济失调、白内障和痴呆等为主要表现。基于此,本文通过对一例脑腱黄瘤病患者的临床资料进行收集与分析,结合相关文献,对其临床表现、实验室检查和影像学特征加以分析,结合该患者的临床表现及影像学诊断,对脑腱黄瘤病开展深入性探究,从而提高对该疾病的准确认识,以便为其诊断和治疗提供有效的参考依据。
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 carried out to improve ac-curate understanding of the disease and provide effective reference basis for its diagnosis and treatment.
作者
杨彦
尤精武
李瑞林
YANG Yan;YOU Jingwu;LI Ruilin(Department of Radiology,Tianshui Traditional Chinese Medicine Hospital,Gansu Province,Tianshui 741000,China;Department of Medical Imaging,the First People's Hospital of Tianshui,Gansu Province,Tianshui 741000,China)
出处
《中国当代医药》
CAS
2024年第9期153-156,共4页
China Modern Medicine
关键词
脑腱黄瘤病
磁共振成像
诊断
双侧跟腱手术
Cerebrotendinous xanthomatosis
Magnetic resonance imaging
Diagnosis
Bilateral Achilles tendon surgery
