脑腱黄瘤病临床、影像学、病理和基因分析一家系报道并文献复习  

A clinic,neuro-image,pathologic and gene analysis of a family with cerebrotendinous xanthomatosis

作　　者：田地[1] 张在强[1] 陈彬[1] 王新高[1] 

机构地区：[1]首都医科大学附属北京天坛医院神经内科,100050

出　　处：《中华临床医师杂志（电子版）》2012年第2期30-32,共3页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的对一个脑腱黄瘤病家系进行临床、病理及基因的分析。方法收集患者病史、家族史,进行影像学检查、神经肌肉活检。对患者及家族成员进行CYP27A1基因突变分析。结果 36岁女性患者,具有典型的脑腱黄瘤病临床表现,跟腱组织可见典型的胆固醇结晶,腓肠神经可见"洋葱皮样"髓鞘改变。CYP27A1基因新发现2种突变:1号外显子缺失一个鸟嘌呤(c.73delG),而2号外显子缺失一段7核苷酸序列(c.369-375delGTACCCA)。家族成员为上述突变的单个突变携带者。结论先证者可临床诊断脑腱黄瘤病,患者和无症状的家族成员均存在基因突变。Objective To investigate the clinic manifestation,histopathology and sterol 27-hydroxylase gene （CYP27A1） in a Chinese family with cerebrotendinous xanthomatosis （CTX）. Methods The medical history, family history, neuro-imaging,pathology and CYP27A1 gene of the pmband and her family were analyzed. Results The 36- year-old female with a typical CTX clinic manifestation had Spindle-shaped lipid crystal clefts in xanthomas and ＂onion-like demyelination＂ in superficial sural nerve biopsy. The patient was compound heterozygote carrying two deletions in exon 1 （73delG） and exon 2 （369-375delGTACCCA）. The family memebers were carriers. Conclusions The CTX of proband can be diagnosed clinically and all the family memebers carried CYP27A1 mutations.

关 键 词：黄瘤病 脑腱性 脂质沉积病 细胞色素P450 CYP27A1 

分 类 号：R742.89[医药卫生—神经病学与精神病学]