Focal cerebral mantle disruption in fetal hydrocephalus

A variety of developmental brain anomalies have been described in individuals with fetal hydrocephalus, regardless of etiology. Examples include callosal dysgenesis, periventricular gray matter heterotopia, hippocampal and white matter hypoplasia, and cortical polygyration. The present report draws attention to another anomaly not reported in previous case series of fetal hydrocephalus: focal cerebral mantle disruption. Neonatal imaging findings (where available) and post-shunt, stable-state magnetic resonance imaging, or pathological findings were reviewed in 77 subjects with fetal hydrocephalus (55 myelomeningocele, 16 sporadic aqueductal stenosis, 6 miscellaneous). Of these, 12 subjects (15.6%) demonstrated a combination of absence of the septum pellucidum and severe thinning or absence of the posteromesial cerebral mantle. On axial sequences, this combination created the illusion of a common ventricle, as in lobar holoprosencephaly. All 12 subjects had massive hydrocephalus at birth, accompanied in 7 by posteromesial ventricular diverticula. Two subjects, and one other subject with distinct lateral ventricles, demonstrated unilateral or bilateral mantle clefts suggestive of schizencephaly. Close radiological (n = 2) or pathological (n = 1) inspection showed that the clefts were only partially lined with gray matter and contained a transverse gliotic membrane. These findings are consistent with the hypothesis that massive early fetal hydrocephalus may completely disrupt cerebral mantle formation, particularly in the posteromesial hemispheres.