{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,31]],"date-time":"2025-05-31T06:04:48Z","timestamp":1748671488880,"version":"3.37.3"},"reference-count":15,"publisher":"Georg Thieme Verlag KG","issue":"01","funder":[{"name":"Medical Genetics Research Training","award":["5T32GM008638-22"],"award-info":[{"award-number":["5T32GM008638-22"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Subdural hemorrhages (SDHs) in the pediatric population are associated with a high mortality and morbidity and may present in the context of abusive head trauma. Diagnostic investigations for such cases often include evaluation for rare genetic and metabolic disorders that can have associated SDH. Sotos syndrome is an overgrowth syndrome associated with macrocephaly and increased subarachnoid spaces and rarely with neurovascular complications. Here, we report two cases of Sotos syndrome, one with SDH during infancy who underwent repeated evaluation for suspected child abuse prior to the Sotos syndrome diagnosis and the other with enlarged extra-axial cerebrospinal fluid spaces, demonstrating a possible mechanism for SDH development in this setting. These cases suggest that some individuals with Sotos syndrome may be at elevated risk of developing SDH in infancy and that Sotos syndrome should be on the differential diagnosis during a medical genetics evaluation in cases of unexplained SDH, especially in the setting of macrocephaly.<\/jats:p>","DOI":"10.1055\/a-2052-8750","type":"journal-article","created":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T00:15:50Z","timestamp":1678752950000},"page":"071-074","source":"Crossref","is-referenced-by-count":1,"title":["Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome"],"prefix":"10.1055","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7300-9311","authenticated-orcid":false,"given":"Tomoki T.","family":"Nomakuchi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesar Augusto P.","family":"Alves","sequence":"additional","affiliation":[{"name":"Division of Neuroradiology, Children's Hospital of Philadelphia, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren A.","family":"Beslow","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children's Hospital of Philadelphia, Pennsylvania, United States"},{"name":"Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States"},{"name":"Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Zarnow","sequence":"additional","affiliation":[{"name":"Division of Neuroradiology, Children's Hospital of Philadelphia, Pennsylvania, United States"},{"name":"Department of Radiology Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neera","family":"Goyal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nemours Children's Health and Sidney Kimmel College of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States"},{"name":"Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francis Jeshira","family":"Reynoso Santos","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States"},{"name":"Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,4,5]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/s00508-020-01648-3","article-title":"Management and outcome of traumatic subdural hematoma in 47 infants and children from a single center","volume":"132","author":"H Binder","year":"2020","journal-title":"Wien Klin Wochenschr"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1136\/adc.2005.084988","article-title":"Outcome following subdural haemorrhages in infancy","volume":"92","author":"S Jayawant","year":"2007","journal-title":"Arch Dis Child"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1590\/S0004-282X2009000300026","article-title":"Menkes disease as a differential diagnosis of child abuse","volume":"67","author":"J H Arita","year":"2009","journal-title":"Arq Neuropsiquiatr"},{"issue":"02","key":"ref4","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.pediatrneurol.2004.07.011","article-title":"Subdural hematoma as clinical presentation of osteogenesis imperfecta","volume":"32","author":"A Groninger","year":"2005","journal-title":"Pediatr Neurol"},{"issue":"03","key":"ref5","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1007\/s12024-015-9698-0","article-title":"Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review","volume":"11","author":"M EM Vester","year":"2015","journal-title":"Forensic Sci Med Pathol"},{"volume-title":"Sotos syndrome","year":"2019","author":"K Tatton-Brown","key":"ref6"},{"issue":"02","key":"ref7","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1080\/01616412.1998.11740498","article-title":"Serial neuroimaging studies in Sotos syndrome (cerebral gigantism syndrome)","volume":"20","author":"N Aoki","year":"1998","journal-title":"Neurol Res"},{"issue":"07","key":"ref8","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1097\/01.GIM.0000177419.43309.37","article-title":"Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency","volume":"7","author":"N Kurotaki","year":"2005","journal-title":"Genet Med"},{"issue":"12","key":"ref9","doi-asserted-by":"crossref","first-page":"3052","DOI":"10.1002\/ajmg.a.61900","article-title":"Chronic subdural hematoma: a previously unreported life-threatening complication in adult with Sotos syndrome","volume":"182","author":"D Carli","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"01","key":"ref10","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/s41439-021-00151-z","article-title":"Cerebrovascular diseases in two patients with entire NSD1 deletion","volume":"8","author":"T Itai","year":"2021","journal-title":"Hum Genome Var"},{"issue":"03","key":"ref11","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1159\/000091863","article-title":"A case of Sotos syndrome with subduroperitoneal shunt","volume":"42","author":"S W Park","year":"2006","journal-title":"Pediatr Neurosurg"},{"issue":"05","key":"ref12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3171\/2021.12.PEDS21436","article-title":"Subdural hematoma prevalence and long-term developmental outcomes in patients with benign expansion of the subarachnoid spaces","volume":"29","author":"K G Holste","year":"2022","journal-title":"J Neurosurg Pediatr"},{"issue":"01","key":"ref13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.pediatrneurol.2007.04.001","article-title":"When is enlargement of the subarachnoid spaces not benign? A genetic perspective","volume":"37","author":"A R Paciorkowski","year":"2007","journal-title":"Pediatr Neurol"},{"issue":"05","key":"ref14","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1007\/s00381-016-3048-8","article-title":"Chronic subdural hematoma associated with mucopolysaccharidosis type III B (Sanfilippo's syndrome B)","volume":"32","author":"T Kawasaki","year":"2016","journal-title":"Childs Nerv Syst"},{"issue":"06","key":"ref15","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1007\/s00247-020-04865-0","article-title":"Genetic causes of fractures and subdural hematomas: fact versus fiction","volume":"51","author":"N E Shur","year":"2021","journal-title":"Pediatr Radiol"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2052-8750.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T14:29:04Z","timestamp":1730816944000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2052-8750"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,13]]},"references-count":15,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2024,1,12]]},"published-print":{"date-parts":[[2024,2]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2052-8750","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"type":"print","value":"0174-304X"},{"type":"electronic","value":"1439-1899"}],"subject":[],"published-other":{"date-parts":[[2023,3,13]]},"published":{"date-parts":[[2023,3,13]]}}}