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EARS2核基因第7号外显子 c.1294C>T杂合无义变异和第5号外显子c.971G>T杂合错义变异，分别来自父亲和母亲；线粒体基因二代测序未发现患 儿线粒体基因变异，但MLPA 检测发现患儿及其母亲线粒体基因 MTND 1- 1*异质性缺失变异。结论 发现导致丘脑脑干 受累性脑白质病伴高乳酸血症新的EARS2核基因外显子c. 1294 C>T无义变异和c. 971 G>T错义变异。

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.1294C>T in exon 7 and heterozygous missense mutation of c.971 G>T in exon 5 of EARS2 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.971G>T in EARS2 nuclear gene were found in leukoencephalopathy with thalamus and brainstem involvement and high lactate.