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Research ArticlePediatric Neuroimaging

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

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 and Kshitij Mankad
American Journal of Neuroradiology October 2024, 45 (10) 1570-1577; DOI: https://doi.org/10.3174/ajnr.A8364
Bar Neeman
aFrom the Department of Radiology (B.N., L.B.-S.), Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel
bFaculty of Medicine (B.N., L.B.-S.), Tel-Aviv University, Tel-Aviv, Israel
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Sniya Sudhakar
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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Asthik Biswas
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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Jessica Rosenblum
dCenter of Medical Genetics (J.R.), Antwerp University Hospital/University of Antwerp, Antwerp, Belgium
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Jai Sidpra
eDevelopmental Biology and Cancer Section (J.S., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK
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Felice D’Arco
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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Ulrike Löbel
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
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Marta Gómez-Chiari
fDiagnostic Imaging Department (M.G.-C.), Hospital Sant Joan de Déu, Barcelona, Spain
gInstitut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain
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Mercedes Serrano
gInstitut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain
hNeuropediatric Department (M.S.), Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases, Barcelona, Spain
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Mercè Bolasell
gInstitut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain
iDepartment of Genetic and Molecular Medicine/IPER (M.B.), Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain
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Kartik Reddy
jDepartment of Radiology and Imaging Sciences (K.R.), Emory University School of Medicine, Atlanta, Georgia
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Liat Ben-Sira
aFrom the Department of Radiology (B.N., L.B.-S.), Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel
bFaculty of Medicine (B.N., L.B.-S.), Tel-Aviv University, Tel-Aviv, Israel
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Reem Zakzouk
kDivision of Neuroradiology (R.Z.), Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
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Amal Al-Hashem
lDivision of Genetics (A.A.-H.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
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David M. Mirsky
mDepartment of Radiology (D.M.M.), Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado
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Rajan Patel
nTexas Children's Hospital (R.P.), Baylor College of Medicine, Houston, Texas
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Rupa Radhakrishnan
oDepartment of Radiology and Imaging Sciences (R.R.), Indiana University School of Medicine, Indianapolis, Indiana
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Karuna Shekdar
pDepartment of Radiology (K.S., M.T.W.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
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Matthew T. Whitehead
pDepartment of Radiology (K.S., M.T.W.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
qPerelman School of Medicine (M.T.W.), University of Pennsylvania, Philadelphia, Pennsylvania
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Kshitij Mankad
cDepartment of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
eDevelopmental Biology and Cancer Section (J.S., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK
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Abstract

BACKGROUND AND PURPOSE: Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the NSD1 gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly, and corpus callosal dysmorphism are typical neuroimaging features that have been described in the medical literature. The purpose of this study was to expand on the neuroimaging phenotype by detailed analysis of a large cohort of patients with genetically proved Sotos syndrome.

MATERIALS AND METHODS: This multicenter, multinational, retrospective observational cohort study systematically analyzed the clinical characteristics and neuroimaging features of 77 individuals with genetically diagnosed Sotos syndrome, via central consensus review with 3 pediatric neuroradiologists.

RESULTS: In addition to previously described features, malformations of cortical development were identified in most patients (95.0%), typically dysgyria (92.2%) and polymicrogyria (22.1%), varying in location and distribution. Incomplete rotation of the hippocampus was observed in 50.6% of patients and was associated with other imaging findings, in particular with dysgyria (100% versus 84.2%, P = .012).

CONCLUSIONS: Our findings show a link between the genetic-biochemical basis and the neuroimaging features and aid in better understanding the underlying clinical manifestations and possible treatment options. These findings have yet to be described to this extent and correspond with recent studies that show that NSD1 participates in brain development and has interactions with other known relevant genetic pathways.

ABBREVIATION:

NSD1
nuclear receptor binding SET domain protein 1
  • © 2024 by American Journal of Neuroradiology
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American Journal of Neuroradiology: 45 (10)
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Cite this article
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
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
American Journal of Neuroradiology Oct 2024, 45 (10) 1570-1577; DOI: 10.3174/ajnr.A8364

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Sotos Syndrome: Neuroimaging Insights
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
American Journal of Neuroradiology Oct 2024, 45 (10) 1570-1577; DOI: 10.3174/ajnr.A8364
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