ObjectiveAicardi and Goutières syndrome was first reported as a rare hereditary encephalopathy with white matter involvement in 1984. Typical clinical manifestations include severe mental motor development retardation or regression, pyramidal and extrapyramidal symptoms and signs, epilepsy, microcephaly and frostbite.MethodsTo collect a case of patient who presented with convulsions 14 days after birth without obvious inducement. The child was diagnosed as epilepsy in the local hospital and the symptoms improved after treatment with antiepileptic drugs. At 4 months, the child presented nods and clenched fists, and was diagnosed as infantile spasm. After Adrenocorticotrophic hormone and drug treatment, the symptoms gradually improved. Due to upper respiratory track infection, the child was aggravated at the age of 1 year and 2 months, and then diagnosed as Aicardi-Goutières syndrome by video EEG, skull MRI, fundus and gene screening.ResultsSurgery and treatment with antiepileptic drugs significantly improved the symptoms of the child, and the pathological biopsy of the brain tissue supported the previous diagnosis.ConclusionsThe report of this case will help to improve the clinician's diagnosis and treatment of Aicardi-Goutières syndrome.