Mohan Reena, Nayyar Roshini, Ryder Lynette, Lord David, Athayde Neil
Westmead Institute for Maternal and Fetal Medicine Westmead New South Wales Australia.
Department of Medical Imaging The Children's Hospital at Westmead Westmead New South Wales Australia.
Australas J Ultrasound Med. 2016 May 20;19(2):75-77. doi: 10.1002/ajum.12009. eCollection 2016 May.
AV malformation of the vein of Galen, also known as vein of Galen aneurysm, is an intracranial anomaly characterised by a midline, high flow lesion with a complex vascular architecture. It compromises less than 1% of all cerebral arteriovenous malformations seen in adults and children. Timely diagnosis of the malformation is of importance particularly during the perinatal period due to the large systemic shunting within the fetal brain potentially leading to cardiac failure, hydrops and perinatal death.
In this report, we present a case that had an increased nuchal translucency of 6 mm at 12 weeks gestation (karyotype normal), nuchal oedema of 12 mm noted at morphology scan and subsequently diagnosed with vein of Galen malformation at 32 weeks on a follow up scan. It was evaluated further with 3D power Doppler imaging modality. 3D power Doppler imaging provided us with improved images of the malformation in utero which was helpful for characterising the vascular anatomic features of the lesion before planned delivery and neonatal treatment.
The patient was followed up with antenatal ultrasounds. There was no evidence of hydrops. She delivered a live healthy infant weighing 2.8 kg by elective caesarean section at 39 weeks. The child is now five and half years old and has undergone embolisation twice.
We present a case illustrating use of Power Doppler imaging in a vein of Galen malformation. Prenatal diagnosis and endovascular treatment in the early neonatal period is important in preventing heart failure and resultant mortality in vein of Galen aneurysm.
大脑大静脉畸形，也称为大脑大静脉动脉瘤，是一种颅内异常，其特征为中线、高流量病变，血管结构复杂。它在成人和儿童中所见的所有脑动静脉畸形中占比不到1%。由于胎儿脑内大量的体循环分流可能导致心力衰竭、水肿和围产期死亡，因此及时诊断该畸形尤为重要，特别是在围产期。
在本报告中，我们介绍了一例病例，该病例在妊娠12周时颈部半透明厚度增加至6毫米（核型正常），在形态学扫描时发现颈部水肿12毫米，随后在32周的随访扫描中被诊断为大脑大静脉畸形。使用三维能量多普勒成像模式对其进行了进一步评估。三维能量多普勒成像为我们提供了子宫内畸形的更好图像，这有助于在计划分娩和新生儿治疗前确定病变的血管解剖特征。
对该患者进行了产前超声随访。没有水肿的迹象。她在39周时通过择期剖宫产分娩了一名体重2.8千克的健康活婴。这个孩子现在五岁半，已经接受了两次栓塞治疗。
我们介绍了一例使用能量多普勒成像诊断大脑大静脉畸形的病例。产前诊断和新生儿早期的血管内治疗对于预防大脑大静脉动脉瘤的心力衰竭和由此导致的死亡率很重要。
