Michaud J, Mizrahi E M, Urich H
Acta Neuropathol. 1982;56(3):161-6. doi: 10.1007/BF00690631.
Agenesis of the cerebellar vermis with fusion of the dentate nuclei and cerebellar hemispheres (rhombencephalosynapsis) is a rare cerebral malformation. We report the case of a 7-h-old girl whose mother had taken the drug phencyclidine during the first 6 weeks of pregnancy. Absence of septum pellucidum, hypoplasia of the commissural system, optic nerves, chiasm and tracts, moderate hydrocephalus, and agenesis of the posterior lobe of the pituitary were also found. Extracranial congenital anomalies involved the cardiovascular, respiratory, urinary, and musculoskeletal systems. Death was secondary to severe respiratory distress and bradycardia. The literature concerning this rare form of cerebellar malformation is reviewed.
小脑蚓部发育不全伴齿状核与小脑半球融合（菱形脑联合）是一种罕见的脑畸形。我们报告了一名7小时大女孩的病例，其母亲在孕期前6周服用了苯环利定。还发现透明隔缺如、连合系统、视神经、视交叉和视束发育不全、中度脑积水以及垂体后叶发育不全。颅外先天性异常累及心血管、呼吸、泌尿和肌肉骨骼系统。死亡继发于严重的呼吸窘迫和心动过缓。本文对有关这种罕见小脑畸形形式的文献进行了综述。
