Paleologou Eleni, Nicholl Richard
Department of Neonates/Paediatrics, Northwick Park Hospital, London, UK.
Department of Neonates, Northwick Park Hospital, London, UK.
BMJ Case Rep. 2014 Jun 23;2014:bcr2013201012. doi: 10.1136/bcr-2013-201012.
This is a case of a newborn male who was diagnosed in the first month of life with tuberous sclerosis following an incidental ultrasound finding of unilateral ventriculomegaly at 36+6 weeks gestation. The antenatal ultrasound scan at 36+6 weeks was performed to establish fetal lie. Subsequent fetal brain MRI showed lesions that were initially thought to be haemorrhages, but turned out to be features of tuberous sclerosis. The baby also had five cardiac rhabdomyomas and multiple ash leaf macules. This was an unusual presentation of tuberous sclerosis, which on average is diagnosed later (mean age of diagnosis is 5 years). It also illustrates two important points: that subependymal nodules and haemorrhage can have a similar radiological appearance on antenatal MRI and cranial ultrasound and that routine antenatal ultrasound screening will miss the majority of cardiac rhabdomyomas.
这是一例新生儿男性病例，在孕36 + 6周时因偶然超声发现单侧脑室扩大，于出生后第一个月被诊断为结节性硬化症。孕36 + 6周时进行的产前超声扫描是为了确定胎儿胎位。随后的胎儿脑部MRI显示有病变，最初认为是出血，但结果却是结节性硬化症的特征。婴儿还患有五个心脏横纹肌瘤和多个叶状白斑。这是结节性硬化症的一种不寻常表现，该病平均诊断时间较晚（平均诊断年龄为5岁）。它还说明了两个要点：室管膜下结节和出血在产前MRI和头颅超声上可具有相似的影像学表现，以及常规产前超声筛查会漏诊大多数心脏横纹肌瘤。
