摘要
对2020年2月山东大学附属儿童医院神经内分泌科收治的1例智力发育障碍伴畸形面容和行为异常患儿的临床资料进行回顾性分析。患儿, 男, 3岁6个月, 因"惊厥发作1年余"就诊。体格检查发现面部畸形。Gesell发育量表提示适应性、大运动为重度发育迟缓, 精细动作、语言、个人-社交为中度发育迟缓;头颅磁共振成像示脑裂;脑电图示双侧前头区为主的广泛性放电, 监测到1次肌阵挛发作;基因检测:FBXO11基因存在杂合变异(c.2480484del), 为致病性变异。提示高通量测序技术增加了识别潜在遗传缺陷作为疾病原因的可能性, 对于反复癫痫发作、多发畸形、全面发育迟缓的患儿, 应该尽早行基因检测, 以明确诊断、指导产前诊断和遗传咨询。
A retrospective analysis was performed on the clinical data of a case of intellectual developmental disorders with dysmorphic facies and behavioral abnormalities admitted in the Department of Neurology and Endocrinology,Children′s Hospital Affiliated to Shandong University in February 2020.The proband was a 3 years and 6 months old boy,who was hospitalized because of"convulsions for more than 1 year".Physical examination revealed facial deformities.Gesell developmental schedule showed that adaptive and gross motor behavior development was severely retarded,and fine motor,language and personal-social behavior development was moderately retarded.Brain magnetic resonance imaging suggested schizencephaly.Electroencephalogram results indicated extensive discharges mainly in bilateral anterior head areas,and one myoclonic seizure was detected.Gene detection results disclosed the pathogenic variation of the proband,which was a heterozygote mutation(c.2480_2484del)in FBXO11 gene.High-throughput sequencing technology increases the possibility of identifying potential genetic mutations as the cause of disease.Patients with recurrent seizures,multi-malformation and general developmental delays should undergo gene detection in time to clarify the etiology.This technique can guide prenatal diagnosis and genetic counseling.
作者
任瀛
胡万冬
高在芬
孟尧
耿贵富
金瑞峰
史建国
张洪伟
Ren Ying;Hu Wandong;Gao Zaifen;Meng Yao;Geng Guifu;Jin Ruifeng;Shi Jianguo;Zhang Hongwei(Department of Neurology and Endocrinology,Children′s Hospital Affiliated to Shandong University,Ji′nan 250022,China;Department of Neuroelectrophysiology,Children′s Hospital Affiliated to Shandong University,Ji′nan 250022,China;Department of Functional Neurosurgery,Children′s Hospital Affiliated to Shandong University,Ji′nan 250022,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2022年第18期1415-1417,共3页
Chinese Journal of Applied Clinical Pediatrics
基金
山东省医药卫生科技发展计划项目(202006010833)。
关键词
FBXO11基因
智力发育障碍伴畸形面容和行为异常
儿童
FBXO11 gene
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Child
