Abstract: 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.

Key words: Aicardi-Goutières syndrome; TREX1 gene; newborn