X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report

X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect consisting of anterior pachygyria and posterior agyria with a moderately thickened brain cortex, dysplastic basal ganglia, and complete agenesis of the corpus callosum are consistently found on magnetic resonance imaging (MRI). Females related to affected boys may have epilepsy and mental retardation or display agenesis of corpus collosum on MRI. These findings can indicate an X-linked semi-dominant inheritance.
The patient was a one-day-old term neonate admitted to our neonatal intensive care unit due to refractory seizure. He was the second child of the family, born to non-consanguineous and healthy parents. His midface was slightly hypoplastic with long and smooth philtrum; the neonate had ambiguous genitalia, as well. Hormonal investigation demonstrated elevated serum 17OH-progesterone, dehydroepiandrosterone sulfate, and testosterone levels. Chromosomal analysis showed a normal male karyotype (46, XY). Brain computed tomography scan showed a typical pattern of lissencephaly with a posterior-to-anterior gradient of severity consisting of frontal pachygyria, posterior agyria, and absence of corpus collosum