hrp0092p1-391 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Foramen Magnum Stenosis (FMS): Neuroradiological Aspects before and after Cervical Decompression in Paediatric Patients with Achondroplasia (ACH).The 'Achondroplasia Multidisciplinary Gaslini's Group' (AMGG) Istituto Giannina Gaslini, Genova, Italy: Child Neuropsychiatry Unit, Neuroradiology Unit, Department of Paediatrics, Neurosurgery Unit, Orthopedic Unit, Rehabilitation Unit, Pulmonary Disease and Allergy Unit.

Allegri Anna Elsa Maria , Di Iorgi Natascia , Napoli Flavia , Patti Giuseppa , Siri Giulia , Severino Mariasavina , Piatelli Gianluca , Maghnie Mohamad

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

hrp0089rfc7.6 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Assessment of Pituitary Stalk Anatomy by T2 DRIVE without Gadolinium in Pituitary Diseases

Napoli Flavia , Godano Elisabetta , Morana Giovanni , Di Iorgi Natascia , Pistorio Angela , Allegri Anna Elsa Maria , Gastaldi Roberto , Calcagno Annalisa , Patti Giuseppa , Gallizia Annalisa , Notarnicola Sara , Giaccardi Marta , Noli Serena , Severino Mariasavina , Tortora Domenico , Rossi Andrea , Maghnie Mohamad

Objectives: To evaluate the potential diagnostic role and sensitivity of T2-weighted DRIVE sequence in pituitary stalk (PS) identification and measurements in patients with hypothalamic-pituitary disorders. The degree of agreement and reliability between standard pre- and post-contrast T1-weighted images and T2-DRIVE will be tested in a large group of patients with pituitary dysfunction.Design: We searched for pituitary MRI reports using ‘T2-DRIVE&#...

hrp0098rfc5.3 | Growth and Syndromes | ESPE2024

Neuroradiological Findings in Noonan Syndrome: a multicentric Italian study

Patti Giuseppa , Gabriella Maiorano Nadia , Piccoli Francesca , Grazia Calevo Maria , Tamburrino Federica , Scarano Emanuela , Schiavarello Concetta , Orlandini Eleonora , Pozzobon Gabriella , Baldoli Cristina , Finamore Martina , Grandone Anna , Aiello Francesca , Cirillo Mario , Corica Domenico , Wasniewska Margherita , Cattoni Alessandro , Remida Paolo , Capalbo Donatella , Tortora Fabio , Azzolini Sara , Mansour Mariam , Felicia Faienza Maria , Palladino Stefano , Napoli Flavia , Angelelli Alessia , Di Iorgi Natascia , Rossi Andrea , Maghnie Mohamad , Severino Mariasavina

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 ge...