title: Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
authors.affiliation: Unidade de Neurologia Infantil Pequeno Príncipe, Hospital Pequeno Príncipe, Curitiba, PR, Brasil. monicaspinosa@yahoo.com
authors.forename: Mônica Jaques
authors.initials: MJ
authors.lastname: Spinosa
authors.forename: Paulo Breno Noronha
authors.initials: PB
authors.lastname: Liberalesso
authors.forename: Simone Carreiro
authors.initials: SC
authors.lastname: Vieira
authors.forename: Alaídes Susana Fojo
authors.initials: AS
authors.lastname: Olmos
authors.forename: Alfredo
authors.initials: A
authors.lastname: Löhr
mesh_terms: D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology*; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis*; D005837:Genitalia, Male / Q000002:abnormalities*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D054082:Lissencephaly / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors