Unusual Association Of Apert Syndrome With Schizencephaly

Abstract

Apert syndrome (AS) is one of the varieties of craniostenosis characterized by coronal sutural synostosis, midfacial hypoplasia and symmetrical syndactyly. It may be primary, originating from a sutural pathology, or secondary resulting from dysgenesis of the underlying brain. Various intracranial anomalies have also been described in AS like megalocephaly, hypoplastic white matter, heterotopic gray matter, frontal encephalocele and agenesis of corpus callosum. Schizencephaly is a neuronal migration defect characterized by clefts lined by gray matter extending from ventricle to cortical surface. Association of schizencephaly with Apert syndrome is extremely unusual as the craniosynostosis of Apert syndrome rarely coexist with the cerebrospinal fluid filled cystic spaces of schizencephaly. We report a rare case of AS associated with schizencephaly.