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胎儿破坏性脑损伤:用头颅超声诊断潜在的发病机制

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.

作者信息

Alarcón Ana, Carreras Nuria, Muehlbacher Tobias, Casas-Alba Dídac, Arena Roberta, Roca-Llabrés Paola, Navarro-Morón Juan, de Vries Linda S, Govaert Paul

机构信息

Department of Neonatology, Hospital Sant Joan de Déu, BCNatal (Barcelona Centre for Maternal, Fetal and Neonatal Medicine), Barcelona, Spain.

Department of Neonatology, Hospital Clínic Barcelona, BCNatal (Barcelona Centre for Maternal, Fetal and Neonatal Medicine), Barcelona, Spain.

出版信息

Dev Med Child Neurol. 2025 Nov;67(11):1383-1408. doi: 10.1111/dmcn.16380. Epub 2025 Jul 13.

Abstract

Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance abuse; congenital brain infections; genetic conditions; and metabolic disorders. Cranial ultrasonography is the first-line imaging modality to diagnose these antepartum brain lesions in the newborn infant; it is often complemented by brain magnetic resonance imaging to detect associated neuronal dysmigration and dysplasia. Using a pictorial approach, a differential diagnosis of foetal disruptive brain lesions and common findings related to antenatal brain damage can be made, including antenatal haemorrhagic and ischaemic brain injuries, porencephaly, schizencephaly, multicystic encephalomalacia, and hydranencephaly, as well as germinolytic cysts and lenticulostriate vasculopathy. The main conditions associated with foetal brain disruption, such as genetic cerebral vascular diseases, monochorionic twin pregnancies, congenital heart disease, maternal drug use, congenital infections, and inborn errors of metabolism can be used to illustrate typical imaging patterns that, when combined with clinical presentation, can assist in identifying the underlying mechanisms and causes, thus supporting individualized patient management.

摘要

影响胎儿中枢神经系统的产前破坏性事件会导致大脑破坏性病变,这些病变通常与神经发育受损有关。这些病变的发病机制包括一系列原因,包括出血性、栓塞性或其他血管事件;接触致畸物,如药物或药物滥用;先天性脑部感染;遗传疾病;以及代谢紊乱。头颅超声检查是诊断新生儿这些产前脑部病变的一线成像方式;通常还会辅以脑磁共振成像以检测相关的神经元移行异常和发育异常。采用图示方法,可以对胎儿破坏性脑病变以及与产前脑损伤相关的常见表现进行鉴别诊断,包括产前出血性和缺血性脑损伤、孔洞脑、脑裂畸形、多囊性脑软化、积水性无脑畸形,以及生发层溶解囊肿和豆纹状血管病变。与胎儿脑破坏相关的主要情况,如遗传性脑血管疾病、单绒毛膜双胎妊娠、先天性心脏病、母亲药物使用、先天性感染和先天性代谢缺陷,可用于说明典型的成像模式,这些模式与临床表现相结合,有助于确定潜在的机制和原因,从而支持个体化的患者管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d10d/12521638/e82f12bd3ee7/DMCN-67-1383-g010.jpg

本文引用的文献

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