PACS2基因突变致新生儿发育性癫痫性脑病1例报告

Neonatal developmental and epileptic encephalopathy caused by PACS2 gene mutation: One case report

分析1例2021年6月就诊于天津市儿童医院PACS2基因突变致新生儿发育性癫痫性脑病1例患儿的临床资料,并复习相关文献。该患儿生后6 d出现抽搐,局灶进展为双侧强直发作。头颅磁共振(MRI)未见异常。动态脑电图提示颞及枕区尖波发放。左乙拉西坦治疗后发作控制。全外显子基因检测示患儿PACS2基因c.625G>A(p.Glu209Lys)错义突变。检索符合条件的中文文献1篇,英文文献6篇共24例患儿,包括本例患儿共25例纳入分析,所有患儿均以癫痫为首发症状,23例在新生儿期起病,24例存在面部畸形(如鼻根低平、上唇薄、宽嘴伴嘴角下垂、眼距宽、睑裂下斜、连眉等),23例患儿表现出不同程度的发育落后,13例头颅磁共振检查提示小脑发育异常。PACS2基因突变相关DEE多在新生儿期以癫痫起病,多伴有发育落后、面部畸形和小脑发育异常。左乙拉西坦治疗可能有效。

The clinical data and genetic features of an DEE caused by PACS2 gene mutation diagnosed in the Neonatal Department,TianJin Children′s Hospital in June 2021 was analyzed and the related literature was reviewed.The patient is a girl.At the age of 6 days,she had tonic seizures,which progressed to bilateral tonic seizure.The brain magnetic resonance imaging(MRI)was normal.Dynamic electroencephalogram(EEG)showed excessive sharp waves in the temporal and occipital regions.She showed good response to levetiracetam.Whole exome sequencing identified a heterozygous missense variant(c.625G>A)in PACS2 gene.A total of 24 children were retrieved from 1 Chinese literature and 6 English literature,and totally 25 children including this case were analyzed.All individuals presented with epilepsy as first symptom,the majority with onset during the neonatal period(23/25 case subjects).A total of 24 cases had facial dysmorphism(such as broad nasal root,thin upper lip,wide mouth with downturned corners,hypertelorism,down-slanting palpebral fissures,synophris,etc);23 individuals showed developmental delay to different degrees.Brain MRI demonstrated dysgenesis of the cerebellar folia in 13 patients.PACS2-related developmental and epileptic encephalopathy is characterized by neonatal-onset seizure in most cases,usually complicated with developmental delay,facial dysmorphism,and cerebellar dysgenesis.Treatment with levetiracetam may be effective.