细丝蛋白A基因相关脑室周围结节状灰质异位新生儿1例  

A neonate with filamin A gene-associated periventricular nodular heterotopia

作　　者：张真珍 Zhenzhen Zhang(Neonatal Intensive Care Unit,Henan Provincial People's Hospital,Zhengzhou 450000,China)

机构地区：[1]河南省人民医院新生儿重症监护病房,郑州450000

出　　处：《中华围产医学杂志》2023年第4期335-338,共4页Chinese Journal of Perinatal Medicine

摘　　要：报告1例新生儿期细丝蛋白A(filamin A,FLNA)基因相关脑室周围结节状灰质异位(periventricular nodular heterotopia,PNH)患儿。患儿母亲表现为难治性癫痫发作,有2次不良孕产史,患儿系29周^(+6)女婴。生后颅脑超声显示双侧侧脑室壁多发低回声团,脑室壁呈“锯齿状”。颅脑MRI示灰质移位,灰白质边缘欠清,双侧侧脑室壁呈波浪状,可见多发结节样信号影。全外显子组测序提示患儿存在FLNA基因chrX:153579307(NM_001110556;p.Glu2376fsTer9)可能致病性杂合变异(遗传自母亲),诊断FLNA基因相关PNH。随访患儿至8月龄无抽搐发作,生长发育无明显异常。This paper reported a neonate with periventricular nodular heterotopia associated to filamin A(FLNA)gene mutation.The female patient was born at 29+6 weeks of gestation to a mother who had intractable seizures and a history of two adverse pregnancy outcomes.Postnatal cranial ultrasound showed multiple hypoechoic masses on the walls of bilateral ventricles,which presented as"sawtooth pattern".MRI revealed gray matter displacement,unclear edge of gray and white matter,wavy bilateral ventricles and multiple nodular signals.Whole exon sequencing showed that the patient carried a maternally-inherited and likely pathogenic heterozygous mutation of chrX:153579307 in the FLNA gene(NM_001110556;p.Glu2376fsTer9),which caused the periventricular nodular heterotopia in the neonate.The patient was followed up until eight months of age and no convulsion or obvious abnormality in her growth or development was reported.

关 键 词：脑室旁小结异位 细丝蛋白 遗传变异 

分 类 号：R722.1[医药卫生—儿科]