Ayme-Gripp综合征1例报告并文献复习  

Ayme-Gripp syndrome:a case report and literature review

作　　者：王建东 方敩 靳培娜 孙娟[1] 禚志红[2] 孔惠敏[2] 王怀立[1] WANG Jiandong;FANG Xiao;JIN Peina;SUN Juan;ZHUO Zhihong;KONG Huimin;WANG Huaili(Pediatric Intensive Care Unit,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,Henan,China;Department of Pediatrics,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,Henan,China)

机构地区：[1]郑州大学第一附属医院儿童重症监护室,河南郑州450052 [2]郑州大学第一附属医院儿科,河南郑州450052

出　　处：《临床儿科杂志》2021年第5期373-376,共4页Journal of Clinical Pediatrics

摘　　要：目的总结Ayme-Gripp综合征(AYGRPS)的临床及基因变异特征。方法回顾分析1例AYGRPS患儿的临床资料,并复习相关文献。结果女性患儿,3岁3个月,5月龄起反复出现抽搐。头围45.5 cm(<P_(3)),身长91 cm(P_(3)~P_(15));特殊面容、牙齿稀疏且有槽痕,智力障碍,癫痫,便秘。头颅磁共振示双侧额顶枕及右侧颞部脑膜增厚,脑积水、双侧侧脑室旁、基底节区异常信号。24小时视频脑电图示异常儿童脑电图。髋关节X线片示左股骨头稍向外上方移位,左髋关节间隙增宽。全外显子测序发现患儿MAF基因存在c.468G>C(p.E 156D)杂合错义变异;预测为有害变异。结合患儿表型及变异位点,诊断为MAF变异所致AYGPRS。查阅文献共21例AYGRPS,均为MAF基因错义变异,以先天性白内障、感音神经性耳聋、特殊面容、骨骼异常伴神经发育异常为主要特征,且合并多系统受累的先天性疾病,半数以上可出现癫痫。结论癫痫是AYGRPS常见临床特征之一,并发现MAF基因新的变异位点。Objective To summarize the clinical characteristics and genetic change in Ayme-Gripp syndrome(AYGRPS).Methods The clinical data of a child with AYGRPS were retrospectively analyzed and related literatures were reviewed.Results A 3 years and 3 months old female patient presented recurrent seizure since five months old.Her head circumference was 45.5 cm(<P_(3)),and body length 91 cm(P_(3)-P_(15)).The clinical features include special face,sparse and grooved teeth,intellectual disability,epilepsy,constipation.Head MRI showed meningeal thickening of bilateral frontoparietal,occipital and right temporal area hydrocephalus,bilateral paraventricular and basal ganglia abnormal signals.The 24-hour video electroencephalogram showed abnormality.DR of the hip joint showed slightly outward and upward shifted left femoral head,and widened left hip joint space.Whole exome sequencing revealed c.468 G>C(p.E156 D)heterozygous missense mutation in MAF gene.Combined with the phenotype and variation,this child was diagnosed as AYGPRS caused by MAF gene mutation.A total of 21 cases of AYGRPS were reviewed in the literature,and all the 21 patients carried missense mutations in MAF gene.The AYGRPS is a congenital disease with multiple system involvement,characterized by congenital cataracts,sensorineural hearing loss,special facial features,skeletal abnormalities and neurodevelopmental abnormalities.More than half patients may have epilepsy.Conclusion Epilepsy is one of the common clinical features of AYGRPS,and a novel mutation in MAF was discovered.

关 键 词：Ayme-Gripp综合征 MAF基因 癫痫 临床特点 诊疗措施 

分 类 号：R725.9[医药卫生—儿科]