VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report  

作　　者：Xiao-Hui Wu Shuang-Zhu Lin Yan-Qiu Zhou Wan-Qi Wang Jia-Yi Li Qian-Dui Chen 

机构地区：[1]Department of Neurology,Quanzhou Children's Hospital,Quanzhou 362000,Fujian Province,China [2]Diagnosis and Treatment Center for Children,The Affiliated Hospital of Changchun University of Chinese Medicine,Changchun 130103,Jilin Province,China [3]Pediatrics of Traditional Chinese Medicine,College of Traditional Chinese Medicine,Changchun University of Chinese Medicine,Changchun 130117,Jilin province,China [4]College of Integrated Chinese and Western Medicine,Changchun University of Chinese Medicine,Changchun 130117,Jilin Province,China

出　　处：《World Journal of Clinical Cases》2022年第24期8749-8754,共6页世界临床病例杂志

摘　　要：BACKGROUND The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults,which can occur at any time in life,often associated with neurological dysfunction,and lead to chronic disability and premature death.Approximately one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes,suggesting defects in protein synthesis within the mitochondria.We here report a child with VARS2 gene mutations causing mitochondrial disease.CASE SUMMARY A girl,aged 3 years and 4 mo,had been unable to sit and crawl alone since birth,with obvious seizures and microcephaly.Brain magnetic resonance imaging showed symmetrical,flaky,long T1-weighted and low T2-weighted signals in the posterior part of the bilateral putamen with a high signal shadow.T2 fluidattenuated inversion recovery imaging showed a slightly high signal and diffusion-weighted imaging showed an obvious high signal.Whole-exome gene sequencing revealed a compound heterozygous mutation in the VARS2 gene,c.1163(exon11)C>T and c.1940(exon20)C>T,which was derived from the parents.The child was diagnosed with combined oxidative phosphorylation deficiency type 20.CONCLUSION In this patient,mitochondrial disorders including Leigh syndrome and MELAS syndrome(mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes)were ruled out,and combined oxidative phosphorylation deficiency type 20 was diagnosed,expanding the phenotypic spectrum of the disease.

关 键 词：Mitochondrial aminoacyl-tRNA synthetase Mitochondrial diseases VARS2 Case report 

分 类 号：R742.1[医药卫生—神经病学与精神病学]