Low A S C, Lee S L, Tan A S A, Chan D K L, Chan L L
Department of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology, Singapore General Hospital, Singapore.
Acta Radiol. 2005 Oct;46(6):645-51. doi: 10.1080/02841850510021409.
We describe a postnatally diagnosed case of Walker-Warburg syndrome--a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling.
我们描述了一例出生后诊断的沃克-沃尔堡综合征病例——一种伴有无脑回畸形和眼部异常的先天性肌营养不良症。我们回顾了文献以突出其临床放射学诊断特征，并讨论产前诊断中遇到的困难，尤其是在没有阳性家族史的病例中。提高对这种罕见但致命疾病的认识，以及在常规产前超声检查时保持高度怀疑，可能会促使进一步进行高级胎儿超声检查和磁共振成像，并有助于及时进行产前诊断、管理和咨询。
