A 4-month-old girl developed convulsion in the neonatal period, which was focal motor seizures in the initial stage and later became spasm and tonic spasm. And the girl also had psychomotor retardation and recurrent pulmonary infection. Electroencephalography showed hypsarrhythmia, normal results were obtained from cranial magnetic resonance imaging, cerebrospinal fluid examination, and urine organic acid analysis, as well as the spectral analyses of blood ammonia, blood lactic acid, blood amino acids, and acylcarnitines. Gene detection revealed a de novo heterozygous mutation, c.607G>A (p.G203R) , in GNAO1. The girl was then diagnosed with GNAO1-associated early infantile epileptic encephalopathy (EIEE type 17). The seizures were well controlled by topiramate and vigabatrin, but there was no improvement in psychomotor development. She also suffered from recurrent pulmonary infection and died at the age of 12 months due to severe pneumonia. For children with unexplained early infantile epileptic encephalopathy, GNAO1 gene mutations should be considered and genetic tests should be performed as early as possible. Recurrent pulmonary infection should also be taken seriously.
患儿，女，4月龄，新生儿期出现抽搐，初起为局灶性运动发作，4月龄时转变为痉挛和强直-痉挛发作，并有发育落后及反复肺部感染。脑电图示高度失律，头颅磁共振、脑脊液检查正常，血氨、血乳酸、血液氨基酸和酰基肉碱谱分析、尿液有机酸分析正常，基因检测发现GNAO1 c.607G>A（p.G203R）新生杂合错义突变，确诊为GNAO1相关早发性癫癎脑病（EIEE17型）。改用托吡酯和氨己烯酸治疗，癫癎发作控制，但精神运动发育无进步，肺部感染反复，12月龄时因重症肺炎死亡。对于不明原因早发性癫癎脑病患儿需警惕GNAO1基因突变，尽早进行遗传学检测，并注意可能合并反复肺部感染。