Abstract: Analyze the clinical and molecular genetic characteristics of PARS2-related developmental and epileptic encephalopathy. Clinical，imaging and genetic data of one patient with PARS2-related developmental and epileptic encephalopathy were retrospectively analyzed. Summarize clinical and genetic characteristics of this disorder based on literature review. The 9-month old boy was admitted to the Department of Pediatrics of Peking University First Hospital in January 2022 for "repeated convulsions for 3 months". They were followed up for eight months and global developmental delay，hypotonia and microcephaly were observed.  A total of 20 patients were analyzed. The main clinical manifestations included onset during the first six months of age，global developmental delay，spasm，hypotonia，microcephaly，cortical atrophy with obvious frontal involvement and abnormal hyperintensities around the cerebellar dentate nuclei and cardiac involvement. A total of 11 pathogenic variants were reported，and the most common variants were c. 283G > A （ 42.3 % ） and c. 1091C > G （ 19.2 % ）. For children with global developmental delay and spasm during the first six months of age，when they had hypotonia，microcephaly，cortical atrophy with obvious frontal involvement and  abnormal hyperintensities around the cerebellar dentate nuclei and cardiac involvement，PARS2-related developmental and epileptic encephalopathy should be considered. The c. 283G > A （ 42.3 % ） and c. 1091C > G （ 19.2 % ） were two high frequency pathogenic variants.

Key words: PARS2 gene, global developmental delay, developmental and epileptic encephalopathy, pathogenic gene

摘要： 探讨PARS2相关发育性癫痫性脑病的临床和分子遗传学特征。回顾性分析1例PARS2相关发育性癫痫性脑病患儿的临床表现、影像学及遗传学数据。结合文献复习，总结该病的临床和遗传学特征。患儿男，9个月，因“反复抽搐3个月”2022年1月就诊于北京大学第一医院儿科。随访8个月仍有全面发育落后，伴肌张力低下及小头畸形。共纳入患儿20例，临床特征为生后6个月以内起病，全面发育迟缓，痉挛发作，肌张力低，小头畸形，以额叶受累为著的脑萎缩伴小脑齿状核周围异常信号及心脏受累。共报道11个致病性变异，最常见的变异为c.283G>A（42.3%）和c.1091C>G（19.2%）。对于生后6个月内起病的全面发育迟缓和痉挛发作患儿，如伴肌张力低，小头畸形，额叶为著的脑萎缩伴小脑齿状核周围异常信号和心脏受累，应考虑到PARS2相关发育性癫痫性脑病的可能，c.283G>A和c.1091C>G为两个高频致病性变异。

关键词: PARS2基因, 全面发育迟缓, 发育性癫痫性脑病, 致病基因