Aslan Halil, Gungorduk Kemal, Yildirim Doğukan, Aslan Oğuz, Yildirim Gokhan, Ceylan Yavuz
Department of Perinatology, Bakirkoy Maternity and Children's Teaching Hospital, Istanbul, Turkey.
J Clin Ultrasound. 2009 May;37(4):245-8. doi: 10.1002/jcu.20572.
We describe the abnormal sonographic findings in the brain of a 26-week fetus, which increased the suspicion of isolated lissencephaly. Follow-up ultrasound examination and MRI depicted diffuse cortical agyria, microcephaly, hypotelorism, and proptosis. Cordocentesis showed a normal 46,XY karyotype, and no short arm deletion of chromosome 17 was detectable. Postmortem examination confirmed complete agyria of the whole fetal brain. Early detection of fetal microcephaly and other cranial abnormalities can be a sign of isolated lissencephaly and need to be evaluated carefully with ultrasound and MRI for detection of abnormal cortical development of the fetal brain.
我们描述了一名26周胎儿脑部异常的超声检查结果,这增加了孤立性无脑回畸形的怀疑。后续超声检查和磁共振成像显示弥漫性皮质无脑回、小头畸形、眼距过窄和眼球突出。脐血穿刺显示核型正常,为46,XY,未检测到17号染色体短臂缺失。尸检证实整个胎儿脑部完全无脑回。胎儿小头畸形和其他颅骨异常的早期检测可能是孤立性无脑回畸形的迹象,需要通过超声和磁共振成像仔细评估,以检测胎儿脑部皮质发育异常。