索托斯综合征无症状硬膜下血肿的潜在患病率:1例报告

Mayu Inohara, Takeshi Matsushige, Akinori Furusawa, Fumitaka Kohno, Madoka Hoshide, Shunji Hasegawa
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引用次数: 0

摘要

背景:索托斯综合征是一种遗传性疾病,其特征是面部特征明显、认知障碍和过度生长,通常伴有大头畸形。虽然罕见,病例硬膜下血肿(SDH)已被报道。我们报告一个8个月大的Sotos综合征男孩,他表现出不同阶段的SDH和头围增加。婴儿足月出生,具有典型的测量;然而,在随访中观察到发育迟缓和大头畸形。随后的脑部MRI显示了典型的索托斯综合征的特征,染色体分析证实了诊断。尽管存在SDH,但患者仍无症状,导致选择保守治疗。本病例对Sotos综合征中SDH的稀少文献有所贡献,并强调了无症状表现的可能性。虽然创伤和虐待通常被认为是婴儿SDH的原因,但探索遗传疾病等其他因素至关重要。结论早期识别和适当监测Sotos综合征患者至关重要,特别是在生命的前三年,并有助于控制潜在的并发症,如SDH。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.
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