关键词: RARS2基因； 桥脑小脑发育不良6型； 儿童

Abstract: Objective To explore the clinical characteristics of children with RARS 2 gene variation and to review the literature. Methods Clinical data of two siblings with RARS 2 mutation were retrospectively analyzed, and the data of 35 children with RARS 2 gene variation in the literature were reviewed. Results Both case one and case two were female with the onset of the disease at the age of 4 months, presenting with feeding difficulties, intractable focal seizures, hypotonia, microcephaly, and transient or continuous increased actic acid. Brain MRI in case one showed progressive cerebral atrophy, right subcranial plate hemorrhage, and abnormal signals in the right basal ganglia. She died at the age of 1 year and 4 months. Brain MRI in case 2 showed abnormal signals in bilateral temporal region and progressive cerebral atrophy. Gene detection identified compound heterogeous mutations c. 1157 G>T （p.R386 L） and c.1210A>G （p.M 404V） in RARS2 gene. A total of 37 cases of children, 37 . 2 % male and 62 . 8 % female, were found in the literature. Most of them started the disease within 6 months, with clinical manifestations including epileptic seizure, psychomotor development stagnation or regression, feeding difficulties, decreased muscle tone and microcephaly. Most of the children with increased blood, cerebrospinal fluid lactic acid and pontocerebellar dysplasia. A total of 33 RARS2 gene mutation sites were found. Conclusion Seizures, feeding difficulties, psychomotor retardation or regression, microcephaly, dystonia, increased lactic acid and pontocerebellar hypoplasia, which mayindicate the possibility of RARS2 gene variants, and genetic testing can be diagnostic. Prognosis of this diorder is poor.