Severino M, Righini A, Tortora D, Pinelli L, Parazzini C, Morana G, Accorsi P, Capra V, Paladini D, Rossi A
From the Neuroradiology Unit (M.S., D.T., G.M., A. Rossi)
Radiology and Neuroradiology Department (A. Righini, C.P.), Ospedale dei Bambini V Buzzi, Milano, Italy.
AJNR Am J Neuroradiol. 2017 Aug;38(8):1643-1646. doi: 10.3174/ajnr.A5245. Epub 2017 Jun 8.
Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial ventricular dilation, and is a potential cause of developmental hydrocephalus. Here, we have reported 13 fetuses with second-trimester obstructive ventriculomegaly and MR features of diencephalic-mesencephalic junction dysplasia, correlating the fetal imaging with available pathology and/or postnatal data. The butterfly sign can be clearly detected on axial images on fetal MR imaging, thus allowing for the prenatal diagnosis of diencephalic-mesencephalic junction dysplasia, with possible implications for the surgical management of hydrocephalus and parental counseling.
间脑-中脑交界处发育异常是一种罕见的畸形，其特征为间脑和中脑之间的交界不清晰，伴有中脑特征性的蝴蝶样轮廓（蝴蝶征）。这种情况可能与其他脑畸形存在不同程度的关联，包括胼胝体异常和幕上脑室扩张，是发育性脑积水的一个潜在原因。在此，我们报告了13例孕中期梗阻性脑室扩大且具有间脑-中脑交界处发育异常磁共振成像（MR）特征的胎儿，将胎儿影像学表现与现有的病理学和/或产后数据进行了关联。胎儿MR成像的轴位图像上可清晰检测到蝴蝶征，从而实现间脑-中脑交界处发育异常的产前诊断，这可能对脑积水的手术治疗和向家长咨询有一定意义。
