Lissencephaly, 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 healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.

Bibliographic Details

Main Authors:	Spinosa,Mônica Jaques, Liberalesso,Paulo Breno Noronha, Vieira,Simone Carreiro, Olmos,Alaídes Susana Fojo, Löhr Júnior,Alfredo
Format:	Digital revista
Language:	English
Published:	Academia Brasileira de Neurologia - ABNEURO 2006
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000600027
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