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Ayaz, Ercan; Yıldırım, Ruken; Çelebi, Canan; Ozalkak, Servan
Journal of neuroimaging, March/April 2023, 2023-03-00, 20230301, Volume: 33, Issue: 2Journal Article
Background and Purpose There are a few studies regarding intracranial findings in neonates with Noonan syndrome (NS); however, there are no quantitative analyses in a pediatric population. The aim of this study was to find characteristic intracranial abnormalities and to quantitatively analyze the posterior fossa and cranium base in children with NS. Methods A total of 30 patients (11 females and 19 males, mean age 13.1 ± 4.3 years) were retrospectively identified between July 2017 and June 2022. Twenty‐one patients had MRI. Age at MRI examination, sex, genetic mutations, and clinical findings were noted. In patients with MRI, the presence of white matter lesions, basal ganglia lesions, corpus callosum abnormalities, sellar/parasellar lesions, and tonsillar ectopia was noted. For morphometric analysis, cerebellar diameter, vermis and clivus heights, cranial base, tentorial and infratentorial angles, and McRae's and Twining's lines were each measured twice by two radiologists individually. Results The most common lesions were focal white matter lesions, followed by abnormalities of the splenium of the corpus callosum. The cerebellar diameter, vermis and clivus heights, Twining's line, and infratentorial angle were significantly smaller; cranial base angle and tentorial angle were significantly larger in NS (p < .05). Interrater and intrarater agreements were the highest for cerebellar diameter and the lowest for tentorial angle measurements. Conclusion Children with NS had characteristic callosal and tentorial findings and neuroimaging findings similar to other RASopathies. This study also shows that a small posterior fossa and flattening of the cranial base are present in children with NS, which may aid in diagnosis.
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