Chiari I malformation in patients with RASopathies.

PURPOSE

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.

METHOD AND RESULTS

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.

CONCLUSION

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.