Clinical and genetic analysis in a patient with type 4 Aicardi-Goutières syndrome

VernacularTitle:Aicardi-Goutières综合征4型1例临床和基因分析
Author: Xiaoli ZHANG ¹ ; Rui HAN ; Xiaoli LI ; Lijun WANG ; Hao CHEN ; Tianming JIA
Author Information

1. 郑州大学第三附属医院小儿神经内科河南郑州 450052
Keywords: Aicardi-Goutières syndrome; RNASEH2A gene; intra-cranial calcifications
From: Journal of Clinical Pediatrics 2018;36(2):134-137
CountryChina
Language:Chinese
Abstract: 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.