Hoving E, Blaser S, Kelly E, Rutka J T
The Hospital for Sick Children, and The Department of Pediatrics, The University of Toronto, Ontario, Canada.
J Neurosurg. 1999 Mar;90(3):537-41. doi: 10.3171/jns.1999.90.3.0537.
The case of a neonate with a large vertex cephalocele is presented. The anatomical features of this anomaly were evaluated by means of magnetic resonance imaging and magnetic resonance angiography. Fusion of the thalami, dysgenesis of the corpus callosum, and failure of adequate formation of the interhemispheric fissure were characteristics of the major cerebral anomalies associated with the cephalocele. The absence of a falx in the midline, a split configuration of the superior sagittal sinus, and a dysgenetic tentorium with a concomitant abnormal venous drainage pattern were found in association with a large dorsal cyst. Repair of the anomaly was undertaken on the 3rd postnatal day. A cerebrospinal fluid shunt was required to treat hydrocephalus on Day 30. The child is well at age 3 years, but with significant developmental delay. The pathogenesis of this vertex cephalocele relates to semilobar holoprosencephaly and dorsal cyst formation. In addition, a disturbance in the separation of the diencephalic portion of the neural tube from the surface ectoderm or skin during the final phases of neurulation had occurred to help create the large cephalocele. Detailed preoperative imaging studies and awareness of the embryology and anatomy of this lesion facilitated the repair of the cephalocele. The prognosis of the child is determined not only by the presence of hydrocephalus, but also by the number of associated major cerebral anomalies. Options for treatment are discussed.
本文介绍了一名患有巨大顶叶脑膨出的新生儿病例。通过磁共振成像和磁共振血管造影对该异常的解剖特征进行了评估。丘脑融合、胼胝体发育不全以及大脑半球间裂形成不足是与脑膨出相关的主要脑异常特征。在中线处没有大脑镰、上矢状窦呈分裂形态以及小脑幕发育不全并伴有异常静脉引流模式，这些都与一个巨大的背侧囊肿有关。在出生后第3天对该异常进行了修复。在第30天需要进行脑脊液分流术来治疗脑积水。患儿3岁时情况良好，但有明显的发育迟缓。这种顶叶脑膨出的发病机制与半侧叶全前脑畸形和背侧囊肿形成有关。此外，在神经胚形成的最后阶段，神经管的间脑部分与表面外胚层或皮肤的分离出现紊乱，这有助于形成巨大的脑膨出。详细的术前影像学研究以及对该病变胚胎学和解剖学的了解有助于脑膨出的修复。患儿的预后不仅取决于脑积水的存在，还取决于相关主要脑异常的数量。文中讨论了治疗方案。
