{"title":"索托斯综合征无症状硬膜下血肿的潜在患病率:1例报告","authors":"Mayu Inohara, Takeshi Matsushige, Akinori Furusawa, Fumitaka Kohno, Madoka Hoshide, Shunji Hasegawa","doi":"10.1016/j.bdcasr.2025.100076","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Sotos syndrome is a genetic disorder distinguished by distinctive facial features, cognitive challenges, and excessive growth, often accompanied by macrocephaly. Although rare, cases of subdural hematomas (SDH) have been reported.</div></div><div><h3>Case presentation</h3><div>We present a case of an 8-month-old boy with Sotos syndrome who presented with SDH of different stages along with an increased head circumference. The infant was born at full term with typical measurements; nevertheless, developmental delays and macrocephaly were observed during follow-up. Subsequent brain MRI revealed features typical of Sotos syndrome, and chromosomal analysis confirmed the diagnosis. Despite the presence of SDH, the patient remained asymptomatic, leading to the choice of conservative treatment.</div></div><div><h3>Discussion</h3><div>This case contributes to the scarce literature on SDH in Sotos syndrome and highlights the possibility of an asymptomatic presentation. While trauma and abuse are frequently considered causes of SDH among infants, exploring alternative factors such as genetic disorders is crucial.</div></div><div><h3>Conclusion</h3><div>Early recognition and proper monitoring of patients with Sotos syndrome are vital, particularly within the first three years of life, and can aid in managing potential complications such as SDH.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100076"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Underlying potential prevalence of silent subdural hematoma in Sotos syndrome: A case report\",\"authors\":\"Mayu Inohara, Takeshi Matsushige, Akinori Furusawa, Fumitaka Kohno, Madoka Hoshide, Shunji Hasegawa\",\"doi\":\"10.1016/j.bdcasr.2025.100076\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>Sotos syndrome is a genetic disorder distinguished by distinctive facial features, cognitive challenges, and excessive growth, often accompanied by macrocephaly. Although rare, cases of subdural hematomas (SDH) have been reported.</div></div><div><h3>Case presentation</h3><div>We present a case of an 8-month-old boy with Sotos syndrome who presented with SDH of different stages along with an increased head circumference. The infant was born at full term with typical measurements; nevertheless, developmental delays and macrocephaly were observed during follow-up. Subsequent brain MRI revealed features typical of Sotos syndrome, and chromosomal analysis confirmed the diagnosis. Despite the presence of SDH, the patient remained asymptomatic, leading to the choice of conservative treatment.</div></div><div><h3>Discussion</h3><div>This case contributes to the scarce literature on SDH in Sotos syndrome and highlights the possibility of an asymptomatic presentation. While trauma and abuse are frequently considered causes of SDH among infants, exploring alternative factors such as genetic disorders is crucial.</div></div><div><h3>Conclusion</h3><div>Early recognition and proper monitoring of patients with Sotos syndrome are vital, particularly within the first three years of life, and can aid in managing potential complications such as SDH.</div></div>\",\"PeriodicalId\":100196,\"journal\":{\"name\":\"Brain and Development Case Reports\",\"volume\":\"3 2\",\"pages\":\"Article 100076\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Brain and Development Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2950221725000157\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain and Development Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2950221725000157","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Underlying potential prevalence of silent subdural hematoma in Sotos syndrome: A case report
Background
Sotos syndrome is a genetic disorder distinguished by distinctive facial features, cognitive challenges, and excessive growth, often accompanied by macrocephaly. Although rare, cases of subdural hematomas (SDH) have been reported.
Case presentation
We present a case of an 8-month-old boy with Sotos syndrome who presented with SDH of different stages along with an increased head circumference. The infant was born at full term with typical measurements; nevertheless, developmental delays and macrocephaly were observed during follow-up. Subsequent brain MRI revealed features typical of Sotos syndrome, and chromosomal analysis confirmed the diagnosis. Despite the presence of SDH, the patient remained asymptomatic, leading to the choice of conservative treatment.
Discussion
This case contributes to the scarce literature on SDH in Sotos syndrome and highlights the possibility of an asymptomatic presentation. While trauma and abuse are frequently considered causes of SDH among infants, exploring alternative factors such as genetic disorders is crucial.
Conclusion
Early recognition and proper monitoring of patients with Sotos syndrome are vital, particularly within the first three years of life, and can aid in managing potential complications such as SDH.