ESPE2024 Rapid Free Communications Growth and Syndromes (6 abstracts)
1Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy. 2Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - University of Genova, Genova, Italy. 3Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy. 4IRCCS Giannina Gaslini, Genova, Italy. 5Rare Diseases Unit, Department of Pediatrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. 6università di Bologna, Bologna, Italy. 7Pediatric Clinic, IRCCS San Raffaele Hospital, Università Vita-Salute San Raffaele, Milano, Italy. 8Neuroradiology Unit, San Raffaele Hospital, Università Vita-Salute San Raffaele, Milan, Italy., Milano, Italy. 9Department of Child, Woman, General and Specialized Surgery, University of Campania L. Vanvitelli, Napoli, Italy. 10Department of Advanced Medical and Surgical Sciences, University of Campania Vanvitelli, Napoli, Italy. 11Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, Messina, Italy, Messina, Italy. 12Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy. 13Department of Neuroradiology, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy. 14Department of Translational Medical Sciences, Paediatric Endocrinology Unit, University "Federico II", Napoli, Italy. 15Department of Advanced Biomedical Sciences, University Federico II Naples, Napoli, Italy. 16Pediatric Department, San Bortolo Hospital, Vicenza, Italy. 17Neuroradiology Department, San Bortolo Hospital, Vicenza, Italy. 18Pediatric Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari “Aldo Moro”, Bari, Italy. 19Radiology Unit, Pediatric Hospital Giovanni XXIII, Bari, Italy
Background: Data on the neuroradiological findings in Noonan syndrome (NS) are limited.
Study Design and participants: Multicentric retrospective observational study conducted in 9 Italian centers of Pediatric Endocrinology. Population includes 112 patients (62 males, 50 females; 73 PTPN11, 8 KRAS, 8 SOS1, 4 LZTR1, 4 RIT1, 4 SHOC2, 3 BRAF, 2 RAF1, 1 ERF, 1 HRAS, 1 MAP2K1, 1 MEK1, 1 PPP1CB, 1 RASA1) with diagnosis of NS genetically confirmed.
Methods: Brain magnetic resonance (MRI) was performed between January 2009 and May 2023. Neuroimaging studies were reviewed in consensus by two neuroradiologists in a tertiary university center for presence of brain, spine, pituitary and cranio-cervical junction malformations, Chiari I anomaly, syrinx, brain tumors and vascular anomalies. Overall, 203 brain MRI and additional 33 spinal MRI studies were reviewed in 112 subjects (mean age at last MRI: 10.6 years, range 8months-31years).
Results: Callosal anomalies (n = 44 hypo-dysplasia, n = 5 complete agenesis, n = 4 hyperplasia) were detected in 53/112 subjects (47.3%). In 51/112 (45,5%), there was mild to moderate white matter volume loss with enlargement of the lateral ventricles. In 56/112 (50%) cases, there were midbrain-hindbrain anomalies (n = 49 pontine hypoplasia, n = 27 inferior vermis hypoplasia). Chiari I anomaly was detected in 13/112 cases (11.6%), while cranio-cervical junction anomalies were found in 31% of subjects. Cerebrovascular anomalies included: intracranial and/or extracranial arterial tortuosity (n = 38), aneurysms (n = 4), cavernoma (n = 4), stroke (n = 3), moyamoya-like collaterals (n = 2), and arterial stenosis (n = 1). A brain tumor (DNET, germinoma) was associated in 9/112 cases (9%). Four subjects (3.5%) had a syrinx while 6 (5%) had a low-lying spinal cord.
Conclusion: The high percentage of neuroradiological abnormalities in our NS cohort suggests the need for brain MRI in clinical practice in NS patients. More data are required in a larger cohort to better understand the impact of neuroradiological involvement in NS and the correlation between genotype and neuroradiological phenotype.