婴儿Sandhoff病临床特点及基因型分析  

Clinical characteristics and genotype analysis of infantile Sandhoff disease

作　　者：王珏[1] 林志[1] 陈琅[1] 方琼[1] 吴菲菲 WANG Jue;LIN Zhi;CHEN Lang;FANG Qiong;WU Feifei(Department of Pediatrics,Provincial Clinical College of Fujian Medical University,Fujian Provincial Hospital,Fuzhou 350001,Fujian,China)

机构地区：[1]福建医科大学省立临床学院福建省立医院儿科

出　　处：《临床儿科杂志》2019年第12期881-884,共4页Journal of Clinical Pediatrics

摘　　要：目的探讨婴儿Sandhoff病的临床和HEXB基因突变特点.方法回顾分析2例婴儿Sandhoff病先证者及其家系的临床资料.结果2例患儿男女各1例,均在婴儿期起病,首发表现均为发育落后,有过度惊吓、癫痫、腱反射增强、眼底樱桃红斑等,均出现进行性发育倒退,2岁左右基本丧失一切运动和认知能力.头颅MRI检查男性患儿未见异常;女性患儿显示双侧基底节异常信号,小脑萎缩.2例患儿HEXB基因分别为杂合、纯合突变,突变位点系首次报道.男性患儿在学龄前期死亡,女性患儿仍在随访中.结论精神运动发育迟缓和倒退是婴儿Sandhoff病最早和最常见的表现,丘脑及基底节区异常信号可能是其特征性表现,髓鞘发育不良和脑萎缩也很常见.基因检测有助于确诊.Objective To explore the clinical and Hexb gene mutation characteristics of infantile Sandhoff's disease.Methods The clinical data of 2 probands of infantile Sandhoff disease and their families were retrospectively analyzed.Results The onset in two probands(one male,one female)was in infancy.The first manifestation was hypoplasia and the common manifestations were excessive fright,epilepsy,tendon reflex enhancement,cherry red spot on the fundus of the eye,etc.Progressive developmental regression occurred in both children,and almost all motor and cognitive abilities were lost around the age of 2 years.Cranial MRI showed that the male patient had no abnormalities and the female patient had abnormal signals in bilateral basal ganglia and cerebellar atrophy.The heterozygous and homozygous mutations were found in HEXB gene of 2 children,and the mutant sites were reported for the first time.The boy died in preschool age and the girl is still in follow-up.Conclusions Mental motor retardation and regression are the earliest and most common manifestations of infantile Sandhoff disease.Abnormal signals in thalamus and basal ganglia may be its characteristic manifestations.Myelodysplasia and brain atrophy are also common.Gene testing is helpful for diagnosis.

关 键 词：Sandhoff病 HEXB基因 樱桃红斑 婴儿 

分 类 号：R725.9[医药卫生—儿科]