Meckel-Gruber综合征是一种以枕骨脑膨出为特征的致命性疾病,多囊肾,多指。在大多数情况下,它在产前被识别和终止。在这份报告中,作者介绍了一例Meckel-Gruber综合征合并Dandy-Walker畸形的病例。一名孕妇在妊娠第28周转诊，超声异常扫描显示后脑膨出和双侧肾脏增大。进一步的成像还显示第四脑室和小脑后脑脊液间隙之间的连通，之后，胎儿被诊断出患有Meckel-Gruber综合征和Dandy-Walker畸形。父母拒绝终止妊娠，后代过早出生，是该近亲家庭中Meckel-Gruber综合征的第二次复发。值得注意的是,在三种不同的怀孕中，在妊娠7个月前超声检查没有结果.尽管到目前为止Meckel-Gruber综合征最终是致命的,受影响新生儿的寿命变化很大。我们建议制定严重程度分类，以估计未终止病例的预期寿命。
Meckel-Gruber syndrome is a lethal disorder characterized by occipital encephalocele, polycystic kidneys, and polydactyly. In most cases, it is identified and terminated antenatally. In this report, the authors present a case of Meckel-Gruber syndrome together with Dandy-Walker malformation. A pregnant woman referred at the 28th week of gestation with an abnormal ultrasound scan showing posterior encephalocele and bilaterally enlarged kidneys. Further imaging also indicated communication between the 4th ventricle and posterior cerebellar cerebrospinal fluid space, after which the fetus was diagnosed with Meckel-Gruber syndrome and Dandy-Walker malformation. Pregnancy termination was refused by the parents and the offspring was prematurely born to be the 2nd recurrence of Meckel-Gruber syndrome in this consanguine family. Remarkably, at the 3 different pregnancies, ultrasound was inconclusive before the 7th month of gestation. Though up to date Meckel-Gruber syndrome is ultimately lethal, the lifespan of affected newborns varied greatly. We suggest developing a severity classification to estimate life expectancy in unterminated cases.
