Anatomical and embryological considerations in the repair of a large vertex cephalocele - Case report

The case of a neonate with a large vertex cephalocele is presented. The ana tomical features of this anomaly were evaluated by means of magnetic resona nce imaging and magnetic resonance angiography. Fusion of the thalami, dysg enesis of the corpus callosum? and failure of adequate formation of the int erhemispheric fissure were characteristics of the major cerebral anomalies associated with the cephalocele. The absence of a fair in the midline, a sp lit configuration of the superior sagittal sinus, and a dysgenetic tentoriu m with a concomitant abnormal venous drainage pattern were found in associa tion with a large dorsal cyst. Repair of the anomaly was undertaken on the 3rd postnatal day. A cerebrospinal fluid shunt was required to treat hydroc ephalus on Day 30. The child is well at age 3 years, but with significant d evelopmental delay. The pathogenesis of this vertex cephalocele relates to semilobar holoprosencephaly and dorsal cyst formation. In addition, a distu rbance in the separation of the diencephalic portion of the neural tube fro m the surface ectoderm or skin during the final phases of neurulation had o ccurred to help create the large cephalocele. Detailed preoperative imaging studies and awareness of the embryology and anatomy of this lesion facilit ated the repair of the cephalocele. The prognosis of the child is determine d not only by the presence of hydrocephalus, but also by the number of asso ciated major cerebral anomalies. Options for treatment are discussed.