脑腱黄瘤病一家系并文献复习  

Cerebrotendinous xanthomatosis:a family report and literature review

作　　者：赵文艳 季光[1] 刘亚玲[1] 任博文 周晓萌 梁娜 张海波 Zhao Wenyan;Ji Guang;Liu Yaling;Ren Bowen;Zhou Xiaomeng;Liang Na;Zhang Haibo(Department of Neurology,the Second Hospital of Hebei Medical University,Shijiazhuang 050000,China)

机构地区：[1]河北医科大学第二医院神经内科,石家庄050000

出　　处：《中华神经科杂志》2020年第8期587-593,共7页Chinese Journal of Neurology

摘　　要：目的报道脑腱黄瘤病(cerebrotendinous xanthomatosis,CTX)一家系的临床资料,以期提高临床上对该病的认识。方法收集河北医科大学第二医院神经内科于2019年5月30日收治的1例CTX先证者的病史,对其进行影像学检查、跟腱肿物病理检查,对先证者及其家族成员进行CYP27A1基因突变分析。系统检索相关文献并复习已报道的CTX病例,总结CTX的临床特征。结果先证者为39岁女性,因"双下肢无力5年余,加重伴言语不清1年"入院,神经系统损害主要表现为智力低下,双侧锥体束受损表现,以及小脑病变的表现。跟腱组织可见胆固醇结晶沉积,CYP27A1基因存在c.435G>A和c.1263+1G>A的复合杂合突变,先证者姐姐CYP27A1基因突变与其相同,其母亲为c.435G>A突变的携带者,父亲为c.1263+1G>A突变的携带者。从国内主要数据库中检索到17例临床资料详细的CTX病例报道,结合本文的1例患者,其中临床特征出现频率>50%的有锥体束征、智力下降、共济失调、构音障碍、跟腱肿物、白内障、高弓足。结论CTX起病隐匿,若患者出现常见疾病无法解释的锥体束征、智力下降、共济失调、构音障碍、跟腱肿物、白内障、高弓足等临床表现时,应考虑CTX可能,可通过组织病理、CYP27A1基因检测明确诊断。Objective To summarize and review a Chinese family with cerebrotendinous xanthomatosis(CTX)so as to improve understanding of the disease.Methods The proband was admitted to the Department of Neurology,the Second Hospital of Hebei Medical University on May 30,2019.The medical history,neuro-imaging,pathology,CYP27A1 gene of the proband and CYP27A1 gene of her family were analyzed.Clinical features of similar cases from published literatures were retrieved and systematically summarized.Results The proband was a 39-year-old female who was admitted to the Second Hospital of Hebei Medical University due to weakness of both lower limbs lasted for more than five years and aggravated for one year with speech slurred.The proband manifested with mental retardation,bilateral pyramidal tract impairment and cerebellar lesions,and had cholesterol crystal in xanthomas and compound heterozygous mutations of c.435G>A and c.1263+1G>A in CYP27A1 gene.The proband′s sister had the same mutation as the proband′s.The proband′s mother was the carrier of c.435G>A mutation,and father was the carrier of c.1263+1G>A mutation.Seventeen related cases concerning CTX with detailed clinical data were searched with major domestic databases.Combined with this case,clinical features with the frequency more than 50%were pyramidal sign,mental decline,ataxia,dysarthria,achilles tendon neoplasm,cataract,high arch foot.Conclusions The onset of CTX is hidden,which can be diagnosed by its pathology and CYP27A1 gene detection.The possibility of CTX should be considered when there are unexplained clinical manifestations in common diseases such as pyramidal sign,mental decline,ataxia,dysarthria,achilles tendon neoplasm,cataract,high arch foot and so on.

关 键 词：黄瘤病 脑腱性 鹅脱氧胆酸 CYP27A1基因 

分 类 号：R596.1[医药卫生—内科学]