目的 总结TREX1基因变异致Aicardi-Goutières综合征（AGS）的临床及基因特征。方法 回顾分析1例新 生儿期起病的AGS综合征患儿的临床资料。结果 女性患儿于生后第2天起发热、喂养困难、呼吸困难；特殊面容，头型尖、 头围小（30 cm）、眼距宽、眼裂窄、鼻梁低平、上唇短小、短下颌，四肢肌张力低，原始反射无异常。头颅CT示双侧基底节 区及侧脑室旁斑片样高密度影；头颅磁共振成像示双侧基底节区及侧脑室旁多发斑点状短T 1、T 2信号影。患儿3月龄时 头围31 cm、小下颌，生长发育迟缓（身长52 cm，体质量4 300 g）；肝大、肝酶增高。复查头颅磁共振成像示双侧苍白球及 双侧内外囊及皮质脊髓束脑桥段信号异常，脑萎缩改变。全外显子基因检测发现患儿TREX1基因存在2个变异位点c.457_ c. 458 insA及TREX 1 :c. 517 C>G杂合变异；分别来自其父母。结论 发现1例新生儿起病的AGS。

Objective To explore the clinical and genetic characteristics of Aicardi-Goutières syndrome (AGS) caused by TREX1 gene variation. Method The clinical data of AGS syndrome of neonatal onset in a child were retrospectively analyzed, and the relevant literature was reviewed. Results A female child had fever, feeding difficulties and dyspnea on the second day after birth. She also suffered from special facial features, including sharp head shape, small head circumference ( 30 cm), ocular hypertelorism, narrow palpebral fissure, flat nose, short upper lip, and short mandible. She had low muscle tension of limbs and no abnormal primitive reflex. Cranial CT showed patchy high-density shadow in bilateral basal ganglia and paraventricular area. Cranial MRI showed multiple spot-like short T 1 and T 2 signal shadows in bilateral basal ganglia and paraventricular area. At the age of 3 months, the child had a head circumference of 31 cm, a small jaw, growth retardation ( 52 cm in length, of 4300 g in weight), hepatomegaly and increased liver enzymes. The reexamination of cranial MRI showed abnormal signals in bilateral globus pallidus, bilateral internal and external capsule and corticospinal tract pons as well as brain atrophy. The whole exome gene detection revealed that there were two heterozygous variations of c.457 _c.458insA and TREX1:c.517 C>G in the TREX1 gene of the child, which originated from her parents. Conclusion A case of AGS syndrome of neonatal onset was found.