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12个月大女童因大脑大静脉畸形出现进行性巨头症:病例报告

Vein of Galen malformation presenting as progressive macrocephaly in a 12-month-old girl: A case report.

作者信息

Cortes Lindsey

机构信息

Department of General Pediatrics, UT Health San Antonio, TX, USA.

出版信息

SAGE Open Med Case Rep. 2025 Aug 7;13:2050313X251364367. doi: 10.1177/2050313X251364367. eCollection 2025.

Abstract

Vein of Galen malformations represent about 30% of pediatric vascular abnormalities. Depending on the type, they can present insidiously with macrocephaly in the absence of other symptoms and are often misdiagnosed as benign, especially if not captured by initial imaging. The objective of this case report is to highlight this malformation to avoid incorrect diagnoses leading to a delay in proper treatment. Herein, a 12-month-old female developed progressive macrocephaly without loss of developmental milestones or focal deficits. Initial diagnostic testing with ultrasound revealed benign extra-axial fluid as the etiology at 6 months of age. With the continued progression of her macrocephaly accompanied by prominent scalp veins, magnetic resonance imaging of the brain revealed a dilated vein of Galen. The patient underwent successful cerebral embolization of a mural type vein of Galen malformation with stabilization of her head circumference by 18 months of age. This case demonstrates a clinician's need to maintain a high index of suspicion and broad differential for children with worsening macrocephaly despite normal neurodevelopment and/or initial imaging. Recognized vein of Galen malformations are infrequently encountered in the pediatric setting as an etiology of a very common finding in infancy, macrocephaly.

摘要

大脑大静脉畸形约占儿童血管异常的30%。根据类型不同,它们可能在没有其他症状的情况下隐匿出现,表现为巨头畸形,且常常被误诊为良性,尤其是在初次成像未发现异常时。本病例报告的目的是强调这种畸形,以避免错误诊断导致延误恰当治疗。在此,一名12个月大的女性出现进行性巨头畸形,但发育里程碑未丧失,也无局灶性缺损。6个月大时,最初的超声诊断检查显示病因是良性轴外积液。随着她的巨头畸形持续进展,并伴有头皮静脉突出,脑部磁共振成像显示大脑大静脉扩张。该患者成功接受了壁型大脑大静脉畸形的脑栓塞治疗,到18个月大时头围稳定。本病例表明,对于尽管神经发育正常和/或初次成像正常,但巨头畸形仍在加重的儿童,临床医生需要保持高度怀疑,并进行广泛鉴别诊断。在儿科环境中,作为婴儿期常见症状巨头畸形的病因,公认的大脑大静脉畸形并不常见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5b0/12332330/d2eba71969d3/10.1177_2050313X251364367-fig1.jpg

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