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Chiari I malformation in patients with RASopathies

Child's Nervous System volume 37, pages 1831–1836 (2021)Cite this article

Abstract

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.

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Fig. 1

Data availability

Not applicable.

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Funding

The study was supported by the Science and Education Program of Suzhou (KJXW2017023).

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Affiliations

  1. Department of Neurosurgery, Children’s Hospital of Soochow University, 92 Zhongnan Street, Suzhou, 215006, Jiangsu, People’s Republic of China

    Yong Han, Min Chen & Hangzhou Wang

Authors
  1. Yong Han
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  2. Min Chen
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  3. Hangzhou Wang
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Corresponding author

Correspondence to Hangzhou Wang.

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The authors received no financial and/or material support for the research reported in this paper. The authors state that there are no conflicts of interest arising from the research reported in this paper.

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Written informed consent was obtained from the patients for the publication of these cases and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

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Yong Han is the first author.

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Han, Y., Chen, M. & Wang, H. Chiari I malformation in patients with RASopathies. Childs Nerv Syst 37, 1831–1836 (2021). https://doi.org/10.1007/s00381-020-05034-2

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  • DOI: https://doi.org/10.1007/s00381-020-05034-2

Keywords

  • Chiari I malformation
  • RASopathy
  • Chiari decompression