A Neonate with X-linked Lissencephaly with Ambiguous Genitalia
نویسندگان
چکیده
X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.
منابع مشابه
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
Background: 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 con...
متن کاملX-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Lissencephaly has been described in over 10 distinct malformation syndromes. Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset epilepsy, hypothalamic dysfunction including deficient tempe...
متن کاملLissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.
INTRODUCTION X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT Second child born to he...
متن کاملX-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia
X-linked lissencephaly with absent corpus callosum and abnormal genitalia (XLAG) is caused by a mutation in the ARX gene. We herein report the clinical course of siblings with XLAG with a splicing mutation in ARX. Seizures were observed in utero. Cerebral atrophy was progressive postnatally, and fetal echoencephalography indicated that the atrophy might have started in the prenatal period. They...
متن کاملNeurobiology of Disease Inactivation of Arx, the Murine Ortholog of the X-Linked Lissencephaly with Ambiguous Genitalia Gene, Leads to Severe Disorganization of the Ventral Telencephalon with Impaired Neuronal Migration and Differentiation
Elena Colombo,1* Patrick Collombat,2* Gaia Colasante,1 Marta Bianchi,1 Jason Long,3 Ahmed Mansouri,2 John L. R. Rubenstein,3 and Vania Broccoli1 1Stem Cell Research Department, San Raffaele Scientific Institute, 20132 Milan, Italy, 2Department of Molecular Cell Biology, Max-Planck Institute for Biophysical Chemistry, 37077 Goettingen, Germany, and 3Nina Ireland Laboratory of Developmental Neuro...
متن کامل