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

  • CUI Qingyang ,
  • TANG Chenghe ,
  • SANG Guimei ,
  • et al
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  • 1 .Department of Pediatrics, First Affiliated Hospital of Xinxiang Medical College, Weihui 453100 , Henan, China; 2.Pediatric Department of Qi County People's Hospital, Qixian 456750, Henan, China

Online published: 2021-03-12

Abstract

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.

Cite this article

CUI Qingyang , TANG Chenghe , SANG Guimei , et al . Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by a novel mutation of EARS2 gene: a case report and literature review[J]. Journal of Clinical Pediatrics, 2021 , 39(3) : 182 . DOI: 10.3969/j.issn.1000-3606.2021.03.005

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