Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies.

Area of Science:

• Pediatric Neurology
• Neuroimaging
• Genetics

Background:

• RASopathies are genetic disorders with rare neuroimaging reports in neonates.
• No prior neuroimaging studies have focused on neonates with RASopathies.

Purpose of the Study:

• To investigate supratentorial and posterior fossa abnormalities in neonates with RASopathies using brain MRI.
• To identify characteristic neuroimaging features in this population.

Main Methods:

• Observational case-control study involving 16 neonates with confirmed RASopathy and 32 healthy controls.
• Brain MRIs were analyzed for hemorrhage, white matter lesions, cortical gyrification, extracerebral space, and posterior fossa structures.

Main Results:

• Neonates with RASopathy exhibited increased white matter lesions, enlarged extracerebral space, and simplified cortical gyrification (P < .001).
• Significantly lower vermis height and higher tentorial/infratentorial angles were observed in the RASopathy group (P < .01).

Conclusions:

• Neonates with RASopathies present with characteristic structural and acquired brain abnormalities.
• This study provides novel neuroimaging findings for supratentorial and posterior fossa abnormalities in neonates with RASopathies.