摘要
回顾性分析2例同卵双胎白质消融性白质脑病(VWM)患儿的临床资料及基因检测结果。患儿,女,为同卵双胎,4岁10个月,双胎之大因“发现步态异常2个月”入院;双胎之小因“发现步态异常1个月”入院;系G3P3,孕37^(+4)周因“双胎”剖宫产娩出,出生体质量分别为3 350 g及3 250 g,出生时无窒息抢救史;发育正常;起病后均步态异常、行走不稳,双侧腱反射亢进,双侧踝阵挛阳性;头颅平扫+增强+波谱分析+脑扩散张量成像:弥漫性双侧对称性异常信号;基因结果为复合杂合突变(国内尚未见报道):EIF2B4 c.1544T>A(p.leu515gln)、c.1445G>T(p.arg482leu);其父母均为杂合子。VWM是遗传性白质脑病之一,极为罕见,诊断需根据临床表现、影像学及EIF2B基因分析。
The clinical data and gene detection results of 2 children with leukoencephalopathy with vanishing white matter(VWM) in monozygotic twins were analyzed retrospectively. The children, female, were 4-year-and-10-month-old monozygotic twins. The elder of the twins was hospitalized for "abnormal gait for 2 months";the younger of twins was hospitalized for "abnormal gait for 1 month". It was G3 P3,and they were delivered at 37^(+4) weeks of gestation by cesarean section. The birth weight was 3 350 g and 3 250 g respectively. There was no history of asphyxia rescue at birth. They had normal development until after onset, both patients had abnormal gait, unstable walking, bilateral tendon hyperreflexia, and bilateral ankle clonus. Head plain scanning+enhancement+spectralanalysis+diffusion tensor imaging showed diffuse bilateral symmetric abnormal signals. The gene result showed a compound heterozygous mutation(not reported in China): EIF2 B4 c.1544 T>A(p.leu515 gln),c.1445 G>T(p.arg482 leu). Their parents were both heterozygotes. VWM is one of the hereditary leukoencephalopathies, which is extremely rare. The diagnosis should be based on clinical manifestations, imaging and EIF2 B gene analysis.
作者
苏惠红
林彩梅
郑小兰
吴玲玲
SU Huihong;LIN Caimei;ZHENG Xiaolan;WU Lingling(Xiamen Children's Hospital,Xiamen 361000,China)
出处
《中国中西医结合儿科学》
2022年第6期495-498,共4页
Chinese Pediatrics of Integrated Traditional and Western Medicine
