ESPE Abstracts

Background: X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome which is a clinical spectrum of ARX mutations is presented with severe growth deficiency, abnormal genitalia and resistant seizures in neonatal period. We present a XLAG case which was formed due to a new ARX mutation and has an appearance of a huge interhemispheric cyst different from classic neuroradiological imagings.Case: The case which was diagnosed with prenatal hydrocephal...