Department of Molecular Medicine, Section of Legal Medicine, University of Padova, Padua, Italy.
Pediatr Neurol. 2013 Feb;48(2):152-8. doi: 10.1016/j.pediatrneurol.2012.10.009.
Hydranencephaly is a severe congenital condition where most of the cerebral hemispheres are replaced by a membranous sac. Despite the growing amount of case reports, most pathogenic, phenotypic, and prognostic aspects of hydranencephaly remain controversial. By matching the recent literature data with the findings of our own series (four cases: two fetuses at the twelfth gestational week, a 32-year-old man, and a 14-year-old female), we attempted to date back the insult leading to hydranencephaly to understand its pathogenesis and to explain the basis of its protean phenotype. The variable detection of cerebral remnants seems to mirror the developmental pathway of cerebral arteries. Moreover, fetal and postnatal neuroimaging data and histopathologic findings point toward an early bilateral internal carotid artery occlusion, mostly occurring between the eighth and twelfth gestational weeks, as the main pathogenic mechanism of hydranencephaly.
无脑畸形是一种严重的先天性疾病，大脑半球的大部分被膜性囊所取代。尽管病例报告越来越多，但无脑畸形的大多数发病机制、表型和预后方面仍然存在争议。通过将最近的文献数据与我们自己的系列研究结果（四个病例：两个胎儿在第十二孕周，一个 32 岁男性和一个 14 岁女性）进行匹配，我们试图追溯导致无脑畸形的损伤，以了解其发病机制并解释其多种表型的基础。大脑残迹的可变检测似乎反映了大脑动脉的发育途径。此外，胎儿和产后神经影像学数据以及组织病理学发现表明，双侧颈内动脉闭塞主要发生在妊娠第 8 至 12 周之间，是无脑畸形的主要发病机制。
