Underlying potential prevalence of silent subdural hematoma in Sotos syndrome: A case report

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. 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. 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. 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.

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Journal
Brain and Development Case Reports
Published
2025-04-16
DOI
https://doi.org/10.1016/j.bdcasr.2025.100076
Primary Topic
Genetic Syndromes and Imprinting
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article
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article

Underlying potential prevalence of silent subdural hematoma in Sotos syndrome: A case report

Shunji Hasegawa, Takeshi Matsushige, M. Inohara, Madoka Hoshide et al.
Brain and Development Case Reports
Genetic Syndromes and Imprinting
article

Underlying potential prevalence of silent subdural hematoma in Sotos syndrome: A case report

Shunji Hasegawa, Takeshi Matsushige, M. Inohara, Madoka Hoshide, Fumitaka Kohno, Akinori Furusawa
article en

Abstract

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. 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. 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. 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.

Brain and Development Case ReportsVol. 3(2)
Yamaguchi University (JP)
Zero hunger
Openalex Percentile: Top 91%
Genetic Syndromes and Imprinting
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Underlying potential prevalence of silent subdural hematoma in Sotos syndrome: A case report — Shunji Hasegawa, Takeshi Matsushige, et al. · Brain and Development Case Reports (2025) | TGRS Research Map | TGRS