Dandy-Walker malformation is a rare abnormality of the central nervous system (CNS) with a reported incidence of 1 in 25,00-35,00 live births and a slight female predominance. It accounts for 1-4% of cases of antenatally detected hydrocephalus. Dandy Walker variant forms part of the spectrum of Dandy Walker malformation. It is characterized by partial agenesis of the vermis, resulting in communication between the fourth ventricle and the cisterna magna. Dandy Walker malformation demonstrates an enlarged posterior fossa, with high insertion of the torcula herophili, as well as other features. In the diagnostic workup, ultrasound is reliable and accurate for making the diagnosis. In utero, fetal MRI can be used to confirm the diagnosis and also to identify any associated abnormalities. In cases of termination of pregnancy, autopsy will offer the diagnosis and provide additional information to assess the risk for future pregnancies and to help in counselling the parents. Autopsy is considered the gold standard for accurate diagnosis of the fetal abnormality. We report the unexpected finding of complete absence of the cerebellum due to maceration at autopsy, even though it was clearly demonstrated (but abnormal) on the antenatal ultrasound scan and MRI, as well as on post-mortem MRI. To the best of our knowledge, this has not been reported previously. Our case demonstrates the relevance of MRI when approaching a post-mortem examination with CNS malformation, and indicates that the "gold standard" might not always be autopsy.

译文

:Dandy-Walker畸形是中枢神经系统(CNS)的罕见异常,据报道25,00-35,00例活产中有1例发生,女性占少数。它占产前检测到的脑积水病例的1-4%。 Dandy Walker变体构成了Dandy Walker畸形谱的一部分。它的特征是the部的部分发育不全,导致第四脑室和大水罐之间的连通。丹迪·沃克畸形表现为后颅窝扩大,伴有肥大的托氏菌插入,以及其他特征。在诊断过程中,超声波对于进行诊断是可靠且准确的。在子宫内,胎儿MRI可用于确认诊断并识别任何相关异常。在终止妊娠的情况下,尸检将提供诊断并提供其他信息,以评估未来怀孕的风险并帮助为父母提供咨询。尸检被认为是准确诊断胎儿异常的金标准。我们报告了出乎意料的发现,即尸体解剖中的浸渍完全导致了小脑的完全不存在,即使在产前超声扫描和MRI以及验尸MRI上已明确证实(但异常)。据我们所知,以前尚未对此进行报告。我们的病例证明了进行CNS畸形的验尸检查时MRI的相关性,并表明“黄金标准”可能并不总是尸检。

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