Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.
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.
Spinosa
Mônica Jaques
MJ
Unidade de Neurologia Infantil Pequeno Príncipe, Hospital Pequeno Príncipe, Curitiba, PR, Brasil. monicaspinosa@yahoo.com
Liberalesso
Paulo Breno Noronha
PB
Vieira
Simone Carreiro
SC
Olmos
Alaídes Susana Fojo
AS
Löhr
Alfredo
A
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*
C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors