Introduction: Aicardi-Goutières Syndrome (AGS) is a rare encephalopathy, characterized with microcephaly, intracranial calcifications, and cerebral white matter abnormalities. Chilblains are also important diagnostic extraneurologic sign, resulting from inflammatory vasculopathy with microvascular injury leading to thrombi formation. The genes mutated in AGS have been recently defined to encode TREX1, the RNASEH2 complex, and SAMHD1. Neuroradiologic findings and follow-up images have been described in the literature, but few reports have described MRA findings in AGS patients.

Method: Whole exome sequencing was used to investigate the genetic mutation in infants and children with encephalopathy.

Case Description: Two siblings with TREX1 c.292_293insA mutation were found. The first patient was a term baby born via cesarean section due to maternal uterine myoma. Development delay and hypotonia with microcephaly were noted. Moreover, chilblains were noted during winter, located over her digits and ears. Brain echo showed calcification over basal ganglia and MRI revealed atrophic brain. Follow-up brain MRI showed progressive diffuse emaciation of bilateral temporal, frontal, parietal, and occipital areas. MRA showed diffuse narrowing of intracranial arteries. She was treated with steroid with improvement. Her mother had her second child, whom also had brain calcification. The sibling was expired at 20 days old before diagnosis.

Conclusion: Aicardi-Goutières Syndrome with TREX1 mutation may present with intracerebral large artery disease, which may respond to steroid treatment.