Diagnostic Imaging Centre, Institute of Oncology of Vojvodina, Sremska Kamenica, Serbia.
Acta Neurol Belg. 2011 Jun;111(2):157-9.
We present a case of partial rhombencephalosynapsis, diagnosed by magnetic resonance imaging (MRI), in fetus aged 27 gestational weeks, in a dizygotic twin pregnancy. The distinctive MRI features of this cerebellar malformation (segmental hypogenesis of the cerebellar vermis, partial fusion of the cerebellar hemispheres and dentate nuclei) without associated cerebral abnormalities were confirmed by 32-weeks prenatal and 3-months postnatal MRI studies. At the age of 12 months the affected twin had a slight delay in psychomotor development, mild hypotonia with normal cognitive development. To the authors' best knowledge, this is the first report of a fetal case with isolated partial rhombencephalosynapsis. Its MRI features enlarges the narrow spectrum of uncommon variants of rhombencephalosynapsis, and allow an accurate differentiation from other vermian and cerebellar anomalies with less favorable postnatal outcome.
我们报告了一例部分性脑回融合畸形病例,该病例于孕 27 周的双卵双胎妊娠胎儿中经磁共振成像(MRI)诊断。该小脑畸形(小脑蚓部节段性发育不全、小脑半球部分融合和齿状核)无相关脑异常的独特 MRI 特征,通过 32 周产前和 3 个月产后 MRI 研究得到证实。在 12 个月大时,受影响的双胞胎在精神运动发育方面略有延迟,轻度张力减退伴正常认知发育。据作者所知,这是首例孤立性部分性脑回融合畸形的胎儿病例报告。其 MRI 特征扩大了脑回融合畸形少见变异的狭窄谱,并能够与其他具有较差预后的蚓部和小脑异常准确区分。