![]() This genetic disorder predominantly affects males and it is mainly caused by the expansion of CGG in FMR1 gene. Mental retardation has an approximated prevalence of 2% in the general population and its most frequent cause is X-fragile syndrome. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea. ![]() MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. ![]() Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. 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).
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