脑腱黄瘤病1例并文献复习  

Cerebrotendinous xanthomatosis:a case report and literature review

作　　者：孔文程 徐广润[1] 贾俊丽 崔新宇 KONG Wencheng;XU Guangrun;JIA Junli;CUI Xinyu(Department of Neurology,Qilu Hospital,Cheeloo College of Medicine,Shandong University,Jinan 250012,Shandong,China)

机构地区：[1]山东大学齐鲁医院神经内科,山东济南250012

出　　处：《山东大学学报（医学版）》2021年第11期72-75,共4页Journal of Shandong University:Health Sciences

基　　金：山东省重点研发计划(2018GSF118059)。

摘　　要：目的对1例CYP27A1基因突变的脑腱黄瘤病患者进行临床表现、影像学特征、基因分析,以提高临床医生对此病的认识。方法收集我院1例诊断为脑腱黄瘤病患者的临床资料并进行分析,结合相关文献对该疾病进行简单总结。结果患者为30岁男性,自幼视力差,因行走不稳2年入院。查体示双侧跟腱肿物,弓形足,四肢肌张力增高,双侧锥体束征阳性。颅脑MRI显示双侧小脑齿状核T2像稍高信号;踝关节MRI显示双侧跟腱黄瘤;简易精神状态检查评分15分;蒙特利尔认知评估量表评分10分。对患者及患者父母进行基因检测,患者为CYP27A1基因c.1214+1 G> A、c.1004C> T复合杂合突变。结论脑腱黄瘤病早期症状隐匿且无特异性,患者既往可有婴幼儿慢性腹泻、青少年白内障、骨质疏松症、肌腱黄瘤等病史,当患者出现认知障碍、进行性共济失调、锥体束征等神经系统症状时,临床医生应高度怀疑此病,并应尽早进行基因检测以明确诊断,早期治疗可延缓疾病进展。Objective To investigate the clinical manifestations,imaging features and gene mutations of 1 patient with cerebrotendinous xanthomatosis(CTX),in order to raise clinicians’ awareness of this disease.Methods The clinical data of 1 patient with CTX treated in our hospital were analyzed,and relevant literature was reviewed.Results The male patient was 30 years old,with poor vision since childhood,admitted to our hospital due to unstable walking for 2 years.Physical examination showed bilateral Achilles tendon masses and cavus,high muscle tone in the extremities,and positive bilateral pyramidal tract sign.Brain MRI showed slightly high intensity in bilateral cerebellar dentate nuclei on T2 WI.Ankle MRI showed bilateral Achilles tendon xanthoma.The scores of Mini Mental State Examination and Montreal Cognitive Assessment were 15/30 and 10/30,respectively.Genetic testing of the patient and his parents showed the patient had compound heterozygous for c.1214 G > A and c.1004 C > T in CYP27 A1.Conclusion Early symptoms of CTX are occult and non-specific.Patients may have a history of neonatal chronic diarrhea,juvenile cataract,juvenile osteoporosis and tendon xanthoma.When patients develop neurological symptoms such as cognitive impairment,progressive ataxia and pyramidal tract sign,CTX should be considered and genetic testing should be performed as early as possible.Early treatment can delay disease progression.

关 键 词：脑腱黄瘤病 共济失调 认知功能障碍 CYP27A1基因 

分 类 号：R742.89[医药卫生—神经病学与精神病学]