Abstract: Objective　To explore the clinical, imaging and genotypic characteristics of Aicardi-Goutières syndrome (AGS) type 6. Method　The clinical data of AGS type 6 in a child was analyzed retrospectively, and related literature were reviewed. Results　The proband, an 11-year-old boy, have had growth retardation since childhood and visited the clinic for convulsions. He had symmetric mixed pigmentation and depigmentation spots on the back of the neck, hands and feet, and facial freckle-like pigment spots. Craniocerebral CT suggested bilateral basal ganglia calcification. Head MRI showed a thin corpus callosum and a widely abnormal signal in both sides of the internal capsule and outer capsule, periventricular white matter and centrum semiovale white matter. Gene sequencing suggested complex heterozygous mutations in ADAR, c.1A > G and c.3124C > T, which had not been reported in China. The elder brother of proband carried the same gene mutation and  had only skin lesions. The phenotypes of their parents were normal. Conclusion　This is the first reported AGS type 6 caused by ADAR gene mutation in China. The phenotype of ADAR gene is heterogeneous, which can be manifested as AGS or dyschromatosis symmetrica hereditaria.