Clinical and genetic analysis in a patient with type 4 Aicardi-Goutières syndrome / 临床儿科杂志

Objective To explore the clinical characteristics, imaging and genetic features of Type 4 Aicardi-Goutières syndrome (AGS). Methods The clinical data were collected, genetic changes were tested using next generation sequencing, and relevant literatures were reviewed. Results A 5 months old girl present with recurrent fever, intelligence and motor developmental delay, epilepsy, microcephaly, spasticity, cerebrospinal fluid pleocytosis. Brain MRI displayed cerebral atrophy and white matter lesions. Brain CT displayed intra-cranial multiple calcifications. Two missense mutations were identified in RNASEH2A,c.199G>C was a novel mutation,and c.322C>T was a known pathogenic mutation.Conclusions RNASEH2A gene mutations can lead to type 4 AGS.