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Chiari I malformation in patients with RASopathies
Yong Han1, Min Chen1, Hangzhou Wang2
1Department of Neurosurgery, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou, 215006, Jiangsu, People's Republic of China.
Summary
Chiari I malformation (CIM) is frequently seen in RASopathies, genetic disorders affecting the RAS/MAPK pathway. Understanding this association aids clinical guidance and clarifies CIM
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Chiari I malformation (CIM) is a common pediatric neurologic anomaly.
- CIM is potentially associated with various genetic disorders, including RASopathies.
- The exact relationship between CIM and RASopathies requires further clarification.
Purpose of the Study:
- To investigate the association between Chiari I malformation and RASopathies.
- To provide clinical guidance for managing patients with both conditions.
- To contribute to understanding the genetic etiology of CIM.
Main Methods:
- Literature review of current knowledge on CIM and RASopathies.
- Case series describing patients with CIM and RASopathies (Noonan syndrome, neurofibromatosis type 1).
- Analysis of surgical outcomes for Chiari decompression in affected patients.
Main Results:
- One patient presented with CIM and Noonan syndrome.
- Three patients had CIM and neurofibromatosis type 1.
- Surgical decompression for CIM in these patients resulted in straightforward recovery.
Conclusions:
- RASopathy patients may require nervous system imaging.
- Increased MRI availability suggests a higher prevalence of CIM in RASopathy.
- Further research is needed to elucidate the pathogenic mechanisms involving the RAS/MAPK pathway in CIM.
