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镰状窦持续存在伴颞枕裂脑:伴有未发育的Galen 静脉和/或直窦病例报告并文献复习

Persistent falcine sinus with temporo-occipital schizencephaly: case report with a review of literature in relation to the undeveloped vein of Galen and/or straight sinus.

机构信息

Department of Radio-Diagnosis, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry, 600506, India.

出版信息

Childs Nerv Syst. 2020 Feb;36(2):417-421. doi: 10.1007/s00381-019-04234-9. Epub 2019 Jun 1.

DOI:10.1007/s00381-019-04234-9
PMID:31154486
Abstract

Falcine sinus is a normal midline embryonic venous sinus present in the fetal brain and usually disappears by birth. Persistent falcine sinus (PFS) has been reported as a normal variant or along with vein of Galen (VOG) malformation, encephalocele, and other abnormalities. Schizencephaly, either closed or open type, has been reported with other associated vascular anomalies. We report a 22-month-old child, who presented with delayed milestones and referred for magnetic resonance (MR) imaging, and the child was found to have PFS with associated bilateral temporo-occipital closed-lip schizencephaly, hippocampal abnormalities, falco-tentorial dehiscence, and white matter abnormalities. The vein of Galen and straight sinus were absent, and the internal cerebral veins were seen draining into superior sagittal sinus via the falcine sinus. These set of abnormalities are unique from abnormalities reported previously in association with the falcine sinus.

摘要

镰状窦是胎儿脑中存在的正常中线胚胎静脉窦,通常在出生时消失。永存镰状窦(PFS)已被报道为正常变异或与大脑大静脉(Galen 静脉)畸形、脑膨出和其他异常并存。裂脑畸形,无论是闭合型还是开放型,都与其他血管异常有关。我们报告了一名 22 个月大的儿童,因发育迟缓就诊并进行了磁共振成像(MR)检查,发现该儿童存在 PFS 合并双侧颞枕部闭合唇裂脑畸形、海马异常、镰状窦和天幕裂孔、脑白质异常。大脑大静脉和直窦缺失,内脑静脉通过镰状窦流入上矢状窦。这组异常与之前报道的与镰状窦相关的异常不同。

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Persistent falcine sinus with temporo-occipital schizencephaly: case report with a review of literature in relation to the undeveloped vein of Galen and/or straight sinus.镰状窦持续存在伴颞枕裂脑:伴有未发育的Galen 静脉和/或直窦病例报告并文献复习
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Persistent falcine sinus: is it really rare?镰状窦持续存在:真的罕见吗?
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Unilateral right closed-lip schizencephaly.单侧右侧唇裂脑裂畸形。
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本文引用的文献

1
Schizencephaly revisited.再探脑裂畸形。
Neuroradiology. 2018 Sep;60(9):945-960. doi: 10.1007/s00234-018-2056-7. Epub 2018 Jul 19.
2
A review of extraaxial developmental venous anomalies of the brain involving dural venous flow or sinuses: persistent embryonic sinuses, sinus pericranii, venous varices or aneurysmal malformations, and enlarged emissary veins.脑外轴发育性静脉异常涉及硬脑膜静脉血流或窦:永存胚胎窦、颅骨窦、静脉瘤或动脉瘤性畸形以及扩大的导血管。
Neurosurg Focus. 2018 Jul;45(1):E9. doi: 10.3171/2018.5.FOCUS18107.
3
Novel mutation in a fetus with early prenatal onset of schizencephaly.
一例产前早期发生脑裂畸形胎儿的新突变。
Hum Genome Var. 2018 Apr 24;5:4. doi: 10.1038/s41439-018-0005-y. eCollection 2018.
4
Falcine Sinus: Incidence and Imaging Characteristics of Three-Dimensional Contrast-Enhanced Thin-Section Magnetic Resonance Imaging.镰状窦:三维对比增强薄层磁共振成像的发生率及影像学特征。
Korean J Radiol. 2018 May-Jun;19(3):463-469. doi: 10.3348/kjr.2018.19.3.463. Epub 2018 Apr 6.
5
Fate of the three embryonic dural sinuses in infants: the primitive tentorial sinus, occipital sinus, and falcine sinus.婴儿期三个胚胎硬脑膜窦的转归:原始小脑幕窦、枕窦和大脑镰窦。
Neuroradiology. 2018 Mar;60(3):325-333. doi: 10.1007/s00234-018-1980-x. Epub 2018 Jan 22.
6
Prevalence of persistent falcine sinus as an incidental finding in the pediatric population.儿童人群中持续性天幕窦作为偶然发现的发生率。
AJR Am J Roentgenol. 2014 Aug;203(2):424-5. doi: 10.2214/AJR.13.10799.
7
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.COL4A1 基因突变的表型谱:脑裂畸形到脑裂畸形。
Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7.
8
Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.COL4A1 型胶原基因突变的临床谱:一种新的遗传多系统疾病。
Curr Opin Neurol. 2011 Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6.
9
Two cases with persistent falcine sinus as congenital variation.两例持续性大脑镰窦为先天性变异。
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10
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AJNR Am J Neuroradiol. 2010 Feb;31(2):367-9. doi: 10.3174/ajnr.A1794. Epub 2009 Sep 24.