EARS2基因变异致新生儿丘脑脑干受累性脑白质病伴高乳酸血症1例报告并文献复习

目的 探讨丘脑脑干受累性脑白质病伴高乳酸血症的临床表型及基因型.方法 回顾分析1例新生儿丘脑脑干受累性脑白质病伴高乳酸血症患儿的临床资料并复习相关文献.结果 女性患儿,出生26小时,临床表现为反应差、抽搐及顽固性高乳酸血症.患儿于妊娠期时头颅MRI示胼胝体缺如.全外显子测序发现患儿EARS 2核基因第7号外显子c.12...

Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by a novel mutation of EARS2 gene:a case report and literature review

Objective To explore the clinical phenotype and genotype of leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by a novel mutation of EARS 2 gene.Methods The clinical data of leukoencephalopathy with thalamus and brainstem involvement and high lactate in a neonate were retrospectively analyzed,and the related literature was reviewed.Results A 26-hour-old female presented with poor response,convulsions and refractory hyperlactemia.Head MRI during pregnancy showed absence of corpus callosum.The heterozygous nonsense mutation of c.1294 C>T in exon 7 and heterozygous missense mutation of c.971 G>T in exon 5 of EARS 2 gene were detected by whole exon sequencing,which were come from her father and mother respectively.No mitochondrial gene variation was found in the child by the second generation sequencing of mitochondrial gene,but a heterogeneous deletion mutation of mitochondrial gene MTND 1-1*was found in the child and her mother by MLPA test.Conclusion New nonsense mutation of c.1294 C>T and missense mutation of c.971 G>T in EARS 2 nuclear gene were found in leukoencephalopathy with thalamus and brainstem involvement and high lactate.