Central nervous system involvement in individuals with RASopathies

Area of Science:

• Genetics and Neurology
• Pediatric Syndromes

Background:

• RASopathies are a group of genetic disorders with diverse clinical presentations.
• Central nervous system (CNS) anomalies are a common feature across various RASopathies.

Purpose of the Study:

• To review and aggregate data on common and uncommon CNS manifestations in RASopathies.
• To provide a comprehensive overview of neurological findings associated with RASopathies.

Main Methods:

• A comprehensive literature review was conducted.
• Aggregate data on CNS manifestations in RASopathies were compiled and analyzed.

Main Results:

• Macrocephaly is a typical CNS finding in most RASopathies.
• Specific anomalies like low-grade gliomas (Noonan syndrome), Chiari 1 malformation (Costello syndrome), and structural anomalies (Cardio-facio-cutaneous syndrome) are noted.
• Limited data exist for rare RASopathies, highlighting the need for further research.

Conclusions:

• RASopathies share underlying genetic causes and overlapping clinical features, including CNS anomalies.
• Understanding the spectrum of CNS findings is crucial for managing individuals with RASopathies.
• Further research is needed for rare RASopathies to fully characterize their CNS manifestations.