背景:在产科超声检查期间检测到透明隔(ASP)缺失是一种罕见的事件。然而,这一发现的临床意义是显著的.ASP可能与严重的中枢神经系统异常有关,如全前脑畸形,call体的发育不全/发育不全,脑裂,严重的脑室扩大和开放性神经管缺陷。在这种情况下,预后较差。当没有发现这种异常时,孤立的ASP通常预后良好。然而,一些被认为分离出ASP的胎儿实际上有隔光发育不良(SOD),这与视神经发育不全有关,下丘脑-垂体功能障碍和发育迟缓。
方法:介绍了一例胎儿3.0特斯拉磁共振成像(MRI)被认为对明确诊断孤立ASP至关重要的病例。对文献进行了回顾和分析,以确定MRI在ASP评估胎儿中的作用。特别考虑分离的ASP和SOD的鉴别诊断。
结论:区分分离的ASP和SOD对于充分的产前咨询是必要的。不幸的是,进行SOD的产前诊断需要对胎儿视神经进行可视化和评估,chiasm和垂体,这是非常苛刻的,并不总是可能使用超声波。胎儿MRI具有获得胎儿大脑高质量图像的潜力,因此该技术可用于建立子宫内的鉴别诊断。
BACKGROUND: The detection of absent septi pellucidi (ASP) during obstetric ultrasound is a rare event. However, the clinical implications of this finding are significant. ASP can be associated with severe central nervous system anomalies such as holoprosencephaly, agenesis/dysgenesis of the corpus callosum, schizencephaly, severe ventriculomegaly, and open neural tube defects. In such cases, the prognosis is poor. When no such anomalies are identified, isolated ASP usually carries a good prognosis. However, some fetuses thought to have isolated ASP actually have septo-optic dysplasia (SOD), which is associated with optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and developmental delay.
METHODS: A case in which fetal 3.0 Tesla magnetic resonance imaging (MRI) was considered crucial to definitively diagnose isolated ASP is presented. A review of the literature was conducted and analyzed to determine the role of MRI in the evaluation of fetuses with ASP, with special consideration on the differential diagnosis between isolated ASP and SOD.
CONCLUSIONS: Differentiating isolated ASP from SOD is imperative for adequate prenatal counseling. Unfortunately, making a prenatal diagnosis of SOD requires visualization and evaluation of the fetal optic nerves, chiasm, and pituitary gland, which is very demanding and not always possible using ultrasound. Fetal MRI has the potential of obtaining high-quality images of the fetal brain, and therefore this technique can be used for establishing the differential diagnosis in utero.