Protein Tyrosine Phosphatases
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Findings support a role for RAS/MAPK pathway dysregulation in brain development and highlight the clinical value of MRI in selected patients with NS.
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CONTEXT: Neuroradiological findings in Noonan syndrome (NS) remain insufficiently characterized. OBJECTIVE: To characterize neuroimaging abnormalities in children with genetically confirmed NS and evaluate their associations with clinical phenotype. DESIGN, SETTING, AND PARTICIPANTS: In this multicenter retrospective study, brain MRI scans and longitudinal clinical and genetic data were reviewed from children with genetically confirmed NS evaluated between 2008 and 2023 at seven pediatric endocrinology centers. MAIN OUTCOME MEASURES: Prevalence and spectrum of neuroimaging abnormalities and their associations with genotype and clinical features. RESULTS: The cohort included 130 individuals with NS (71 males; mean age at MRI, 9.7 years), most carrying PTPN11 variants (69.2%). Structural brain abnormalities were identified in 84.7% and included midbrain-hindbrain malformations (69.2%), callosal anomalies (52.3%), cortical malformations (50%), white matter abnormalities (48.4%), and cranio-cervical junction anomalies (40%). Brain tumors and Chiari I malformation were present in 12.3% and 10.7%, respectively. Seizures were associated with cortical tumors (p = 0.02) and callosal anomalies (p = 0.03), whereas developmental delay was associated with callosal anomalies (p = 0.02) and microcephaly (p < 0.01). Follow-up MRI, available in 41 patients over a mean duration of 6.3 years, showed interval changes in 48.7%, including tumor progression, progressive tonsillar descent, odontoid retroversion, and newly detected lesions. CONCLUSIONS: In this selected cohort of children with NS who underwent brain MRI as part of routine clinical care, structural brain abnormalities were frequent and were associated with neurological manifestations. These findings support a role for RAS/MAPK pathway dysregulation in brain development and highlight the clinical value of MRI in selected patients with NS.
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@article{Patti2026Neuroimaging,
title = {Neuroimaging Abnormalities and Genotype-Phenotype Correlations in Noonan Syndrome: A Multicenter Cohort Study},
author = {Giuseppa Patti and Nadia Gabriella Maiorano and Francesca Piccoli and A. Zucconi and Maria Grazia Calevo and Federica Tamburrino and Emanuela Scarano and Concetta Schiavariello and Cesare Rossi and Laura Mazzanti and Eleonora Orlandini and Gabriella Pozzobon and Martina Finamore and Cristina Baldoli and Anna Grandone and Mario Cirillo and Francesca Aiello and Domenico Corica and Malgorzata Wasniewska and Alessandro Cattoni and Paolo Remida and Donatella Capalbo and Fabio Tortora and Maria Carolina Salerno and Sara Azzolini and Mariam Mansour and Maria Felicia Faienza and Stefano Palladino and Domenico Tortora and Giulia Rosti and Francesca Faravelli and Cristina Venturino and Pasquale Capuozzo and Letizia Mori and Paola Maietta and Anna Elsa Maria Allegri and Chiara Morreale and Alessia Angelelli and Flavia Napoli and Natascia Di Iorgi and Andrea Rossi and Mohamad Maghnie and Mariasavina Severino},
journal = {The Journal of Clinical Endocrinology & Metabolism},
year = {2026},
doi = {10.1210/clinem/dgag352},
url = {https://doi.org/10.1210/clinem/dgag352}
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