Department of Neurosurgery, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou, 215006, Jiangsu, People's Republic of China.
Childs Nerv Syst. 2021 Jun;37(6):1831-1836. doi: 10.1007/s00381-020-05034-2. Epub 2021 Jan 6.
Chiari I malformation (CIM) is a common pediatric neurologic anomaly which could be associated with a variety of genetic disorders. However, it is not always clear whether the observed associations between CIM and RASopathies are real or random. The knowledge of the real association could provide useful guidance to clinicians. Furthermore, it could help to better understand the still unknown genetic etiology of CIM.
We reviewed the current knowledge of CIM and RASopathies in the paper. Here, we describe one patient with CIM and Noonan syndrome and three patients with CIM and neurofibromatosis type 1. Three of the four patients underwent standard surgical therapy of Chiari decompression and had a straightforward recovery without further complications from surgery.
In RASopathy, imaging of the nervous system may be necessary. With the increase in availability of magnetic resonance imaging, we believe that there will be a growing body of evidence to suggest that CIM is more commonly seen in RASopathy. Future studies should attempt to elucidate the pathogenic mechanism responsible for CIM mediated by the RAS/MAPK signaling pathway.
Chiari I 畸形（CIM）是一种常见的儿科神经学异常，可能与多种遗传疾病有关。然而，观察到的 CIM 与 RAS 病之间的关联是否真实或随机尚不清楚。对真实关联的了解可为临床医生提供有用的指导。此外，它还有助于更好地了解 CIM 仍未知的遗传病因。
我们在本文中回顾了 CIM 和 RAS 病的现有知识。在这里，我们描述了 1 例 CIM 和诺南综合征患者和 3 例 CIM 和神经纤维瘤病 1 型患者。这 4 名患者中的 3 名接受了 Chiari 减压的标准手术治疗，术后恢复顺利，没有出现其他手术并发症。
在 RAS 病中，可能需要对神经系统进行影像学检查。随着磁共振成像可用性的增加，我们相信会有越来越多的证据表明 CIM 在 RAS 病中更为常见。未来的研究应试图阐明由 RAS/MAPK 信号通路介导的 CIM 致病机制。
