MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly

• Published in: American journal of neuroradiology : AJNR Vol. 38; no. 8; pp. 1643 - 1646
• Main Authors: Severino, M, Righini, A, Tortora, D, Pinelli, L, Parazzini, C, Morana, G, Accorsi, P, Capra, V, Paladini, D, Rossi, A
• Format: Journal Article
• Language: English
• Published: United States American Society of Neuroradiology 01.08.2017
• Subjects: Abnormalities; Adult; Brain; Diagnosis; Diencephalon; Diencephalon - abnormalities; Diencephalon - diagnostic imaging; Dysplasia; Female; Fetus; Fetuses; Gestational Age; Humans; Hydrocephalus; Hydrocephalus - congenital; Hydrocephalus - diagnostic imaging; Image detection; Magnetic Resonance Imaging; Mesencephalon; Mesencephalon - abnormalities; Mesencephalon - diagnostic imaging; Nervous System Malformations - diagnostic imaging; Neuroimaging; Pediatrics; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Surgery; Ventricle
• ISSN: 0195-6108; 1936-959X
• DOI: 10.3174/ajnr.A5245

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.