RNF213基因突变致烟雾病1例并文献复习

目的:探讨RNF213基因突变致烟雾病(MMD)的发病机制、临床特点、诊断及治疗方法.方法:回顾分析1例MMD病患儿的临床资料,并对RNF213基因突变致MMD进行文献复习.结果:患儿11月龄首次就诊,临床表现为反复无热惊厥,为全面性强直发作;头颅核磁共振弥散加权成像(DWI)序列双侧额叶、顶叶、右侧放射冠、半卵圆中心...

A Case of Moyamoya Disease Induced by RNF213 Gene and Literature Review

Objectives: To explore the pathogenesis, clinical features, diagnosis and treatment methods of moyamoya disease (MDD) induced by RNF213 gene mutation. Methods: Clinical data of a child with MMD was retrospectively analyzed, and literature of MMD induced by RNF213 gene mutation were reviewed. Results: A 11-month-old child was brought to visit the clinic of our hospital for the first time, the clinical manifestations were recurrent nonfebrile convulsion and generalized tetanic seizure. Head MRI diffusion weighted imaging (DWI) sequence showed multiple abnormal high signals in bilateral frontal lobes, parietal lobes, right corona radiata, semicircular center and watershed. Digital subtraction angiography showed cerebral artery stenosis, and multiple peripheral collateral hemangiomas were formed. Whole exome sequencing showed that the child was a heterozygous mutation of RNF213 gene c.C12040T>C, and neither father nor mother had any variation at this site, which was a new mutation. No site-related variation was found in the 1,000 Genome Project (1KGP), Exome Sequencing Project (ESP6500) and Exome Aggregation Consortium (ExAC) databases. Several bioinformatics softwares predicted that the mutation of this site was pathogenic. Conclusion: Mutation of RNF213 gene can lead to MMD. The gene mutations identified in this study are reported for the first time, which expands the gene mutation spectrum of MMD.