摘要
对2019年11月南京医科大学附属儿童医院康复科诊断的1例Gillespie综合征患儿的病历资料进行回顾性分析。患儿,男,6月龄,其临床特点为运动智力落后、肌张力低下、双眼畏光、眼球震颤、双眼不能注视及追视物,眼科裂隙灯下检查提示瞳孔固定扩大、双眼虹膜部分缺损、特征性虹膜残丝,基因检测及生物信息学分析显示患儿ITPR1基因第26内含子存在1个杂合剪接突变c.3256-1G>A,为新发致病性变异,患儿父母该基因位点均未见异常。提示有双眼虹膜部分缺损、运动智力落后及肌张力低下的患儿应考虑Gillespie综合征,完善基因检测有助于早期明确诊断。
Clinical data of a child diagnosed as Gillespie syndrome in the Department of Rehabilitation,Children′s Hospital of Nanjing Medical University in November 2019 were retrospectively analyzed.The 6-month-old boy presented psychomotor retardation,muscular hypotonia,photophobia,nystagmus and inability to focus and follow objects.Slit lamp examination of eyes revealed fixed dilation pupils,bilateral partial aniridia and characteristic iris strands.Genome sequencing and bioinformatics analysis showed a heterozygous splicing mutation in intron 26 of ITPR1 gene,c.3256-1G>A,which was a newly identified pathogenic mutation that was not been reported yet.Moreover,pa-rents of this case did not carry this mutation.It is suggested that Gillespie syndrome should be considered in children with bilateral partial aniridia,psychomotor retardation and muscular hypotonia.Genetic sequencing is helpful for early diagnosis.
作者
徐欣
汤健
李红英
张丽
陆芬
Xu Xin;Tang Jian;Li Hongying;Zhang Li;Lu Fen(Department of Rehabilitation,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2021年第20期1584-1586,共3页
Chinese Journal of Applied Clinical Pediatrics
作者简介
通信作者:汤健,Email:1328169681@qq.com。
