A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report.
作者： Yan Xu , Bing-Bing Wu , Hui-Jun Wang , Shui-Zhen Zhou , Guo-Qiang Cheng
DOI: 10.21037/TP-20-110
关键词:
摘要: The RARS2 gene encodes mitochondrial arginine-tRNA synthetase. Patients with variants of the have pontocerebellar hypoplasia type 6 (PCH6), which is characterized by early onset seizures, progressive microcephaly, and developmental delay. PCH6 a rare encephalopathy. To best our knowledge, seizure ictal video-electroencephalogram (VEEG) was compatible myoclonic encephalopathy (EME) has not been reported. Here we reported term female neonate EME caused heterozygous [NM_020320: exon10: c.773G>A (p. R258H) Maternal, NM_020320: exon4: c.282_285delAGAG Paternal]. Groan first symptom manifested, followed metabolic disorders, marked cerebral atrophy. Metabolic disorders were corrected after feeding extensively hydrolyzed protein formula. Seizures started at 19th day life. Interictal VEEG showed suppression-burst (SB) pattern revealed seizures that (EME). She had frequent resistant to multi-antiepileptic drugs including phenobarbital, levetiracetam oxcarbazepine, soon developed into convulsive status epilepticus. At 7 months age, she severe delay, infantile spasms. Our case report expands phenotypic spectrum PCH6, meanwhile, should be considered causative in patients EME.
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