Schizencephaly in a dysgenetic fetal brain: prenatal sonographic, magnetic resonance imaging, and postmortem correlation.

e report a case of schizencephaly in a dysgenetic fetal brain diagnosed antenatally by the combined use of 2-dimensional (2D) and 3-dimensional (3D) sonography and magnetic resonance imaging (MRI) and then confirmed by postmortem pathologic examination. Schizencephaly is a rare disorder, resulting in mild to devastating effects on fetal neurodevelopment. The term describes a full-thickness cortical defect from the lateral ventricle to the subarachnoid space lined with pia-ependyma. Schizencephaly can be described as unilateral or bilateral and as closed or open (Figure 1). Unilateral closed cases are occasionally found incidentally on adult head imaging with little or no symptoms, whereas open bilateral cases are generally associated with seizures and very limited cerebral function.1 Its etiology is uncertain but may be an early destructive event before completion of neuronal migration at 16 to 20 weeks2 or a primary neuronal migrational disorder, sometimes associated with a mutation of the EMX2 (empty spiracles homolog 2) gene.3,4