摘要
患儿男,胎龄34+3周,生后因持续呼吸困难住院,查体可见特殊面容、多指、通贯掌及外耳畸形,3周龄时出现急性心力衰竭,心超提示左心室心肌致密化不全(LVNC),全外显子基因检测显示NONO基因存在致病性杂合突变c.1093C>T(p.R365*),诊断为MRXS34综合征。本例患儿发病较早,且具有多指、通贯掌等临床特点,与以往文献报道有所不同,扩大了NONO基因变异的临床表型谱。对合并LVNC的男性患儿,需高度警惕MRXS34综合征,早期完善基因检测,有助于尽早干预改善预后。
A male neonate born at 34+3 weeks′gestation was admitted due to persistent respiratory distress after birth.Multiple congenital malformations involving the face,limbs,ears,and palmar creases were observed.The patient developed acute congestive heart failure during the third week of life,with left ventricular non-compaction(LVNC)confirmed via echocardiography.Whole-exome sequencing revealed a pathogenic heterozygous mutation in the NONO gene(c.1093C>T,p.Arg365*),leading to a diagnosis of MRXS34 syndrome.In contrast to previous reports,this case presented with early-onset manifestations and distinctive clinical features,including polydactyly and simian creases,thereby expanding the phenotypic spectrum associated with NONO mutations.MRXS34 syndrome should be considered in male neonates with LVNC.Timely genetic testing may facilitate early diagnosis and improve prognostic outcomes in hereditary disorders.
作者
章紫晨
朱元元
陈鸣艳
陈军津
王陈红
马晓路
ZHANG Zichena;ZHU Yuanyuana;CHEN Mingyanb;CHEN Junjinb;WANG Chenhongb;MA Xiaolub(Department of Neonatology,Children's Hospital,Zhejiang University School of Medicine,Hangzhou 310052,China;Department of Neonatal Intensive Care UnitChildren's Hospital,Zhejiang University School of Medicine,Hangzhou 310052,China)
出处
《中国循证儿科杂志》
北大核心
2025年第5期395-399,共5页
Chinese Journal of Evidence Based Pediatrics
