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Aicardi-Goutières syndrome type 7 in a Chinese child:A case report

World Journal of Clinical Cases 2023年第11期11卷 2452-2456页

作者： Shuang-Zhu Lin Jing-Jing Yang Tian-Long Xie Jia-Yi Li Jia-Qi Ma Si Wu Na Wang Yong-Ji Wang Diagnosis and Treatment Center for Children Affiliated Hospital of Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina College of Traditional Chinese Medicine Changchun University of Chinese MedicineChangchun 130017Jilin ProvinceChina

BACKGROUND ifih1 is a protein-coding *** associated with ifih1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type *** pathways include RIG-I/MDA5-mediated induction of the interferon(IFN)-α/βpathway and the innate immune *** type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological *** infancy,most patients present with psychomotor retardation,axial hypotonia,spasticity,and brain imaging changes Laboratory assessments showed increased IFN-αactivity with upregulation of IFN signaling and IFN-stimulated gene *** patients develop normally in the early stage,and then have episodic neurological *** SUMMARY The 5-year-old girl presented with postpartum height and weight growth retardation,language retardation,brain atrophy,convulsions,and growth hormone *** samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number *** mutations in the ifih1 gene were *** examination at admission found that language development was delayed,the reaction to name calling was average,there was no communication with people,but there was eye contact,no social smile,and no autonomous ***,the child had rich gesture language and body language,could understand instructions,had bad *** she wants to achieve something,she starts crying or *** examination showed no obvious abnormality,and abdominal examination was *** muscle strength and muscle tone were symmetrical and slightly *** reflexes exist,but pathological reflexes were not *** We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7,which expanded the mutational spectrum of the ifih1 gene.

关键词： Aicardi-Goutières syndrome type 7 ifih1 gene Children Case report

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