Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development

• DOI: 10.3174/ajnr.a8364
• Publication Date: 2024-08-15T19:30:19Z
• Authors: Bar Neeman; Sniya Sudhakar; Asthik Biswas; Jessica Rosenblum; Jai Sidpra; Felice D’Arco; Ulrike Löbel; Marta Gómez-Chiari; Mercedes Serrano; Mercè Bolasell; Kartik Reddy; Liat Ben-Sira; Reem Zakzouk; Amal Al-Hashem; David M. Mirsky; Rajan Patel; Rupa Radhakrishnan; Karuna Shekdar; Matthew T. Whitehead; Kshitij Mankad
• Keywords: Polymicrogyria; Sotos syndrome; Macrocephaly

<h3>BACKGROUND AND PURPOSE:</h3> Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the <i>NSD1</i> gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly, corpus callosal dysmorphism are typical neuroimaging features have been described medical literature. The purpose of this study was to expand on phenotype detailed analysis large cohort patients genetically proved syndrome. <h3>MATERIALS METHODS:</h3> This multicenter, multinational, retrospective observational systematically analyzed clinical characteristics 77 individuals diagnosed syndrome, via central consensus review 3 pediatric neuroradiologists. <h3>RESULTS:</h3> In addition previously features, malformations cortical development were identified most (95.0%), typically dysgyria (92.2%) polymicrogyria (22.1%), varying location distribution. Incomplete rotation hippocampus observed 50.6% associated other imaging findings, particular (100% versus 84.2%, <i>P </i>= .012). <h3>CONCLUSIONS:</h3> Our findings show link between genetic-biochemical basis aid better understanding underlying manifestations possible treatment options. These yet be extent correspond recent studies participates brain has interactions known relevant genetic pathways.