Neuroimaging abnormalities and genotype–phenotype correlations in Noonan syndrome: a multicenter cohort study
Authors' conclusion
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.
Study context
- Population
- Children with genetically confirmed Noonan syndrome (NS) evaluated 2008–2023 at seven pediatric endocrinology centers with brain MRI; 71 males, mean age at MRI 9.7 years, 69.2% PTPN11 variants
- Participants
- 130 children
- Outcome
- Prevalence and spectrum of neuroimaging abnormalities and their associations with genotype and clinical features
Methodological detailsmulticenter, seven pediatric endocrinology centers
- Multicenter
- Seven pediatric endocrinology centers
Main finding
As reported in the abstract
Structural brain abnormalities
- Structural brain abnormalities
- 84.7%
- Midbrain-hindbrain malformations
- 69.2%
- Callosal anomalies
- 52.3%
- Cortical malformations
- 50%
- White matter abnormalities
- 48.4%
- Cranio-cervical junction anomalies
- 40%
- Brain tumors
- 12.3%
- Chiari I malformation
- 10.7%
Observational data: associations, not effects.
Further findings
Associations of neuroimaging findings with neurological features
- Seizures associated with cortical tumors
- P = 0.02
- Seizures associated with callosal anomalies
- P = 0.03
- Developmental delay associated with callosal anomalies
- P = 0.02
- Developmental delay associated with microcephaly
- P < 0.01
Interval changes on follow-up MRI (tumor progression, progressive tonsillar descent, odontoid retroversion, newly detected lesions) · mean 6.3 years
- Interval changes on follow-up MRI
- 48.7%
- Follow-up MRI available in 41 patients
Original publication
Neuroimaging abnormalities and genotype–phenotype correlations in Noonan syndrome: a multicenter cohort study. J Clin Endocrinol Metab. Published 27 August 2026. doi:10.
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