Gschwendtner A, Mairinger T, Soelder E, Alge A, Kreczy A
Department of Pathology, University of Innsbruck, Austria.
Gynecol Obstet Invest. 1997;44(3):206-10. doi: 10.1159/000291522.
We present the case of a female fetus aborted in the 20th week of gestation due to severely dysplastic kidneys, anhydramnios and hydranencephalus. The combination of these malformations is extremely rare, resulting in only 4 cases described so far. Our case is the first ever presented in a female showing polycystic-dysplastic kidneys. Multiple multinucleated neurons were a remarkable finding in the remnants of the brain. The possibility of an underlying genetic disorder is discussed, together with a brief review of the literature to date.
我们报告一例妊娠20周时因严重发育不良性肾脏、羊水过少和积水性无脑畸形而流产的女胎病例。这些畸形的组合极为罕见，迄今为止仅报道过4例。我们的病例是首例报道的患有多囊发育不良性肾脏的女性病例。在脑残留物中发现多个多核神经元是一个显著特征。本文讨论了潜在遗传疾病的可能性，并对迄今为止的文献进行了简要综述。
