Spinosa Mônica Jaques, Liberalesso Paulo Breno Noronha, Vieira Simone Carreiro, Olmos Alaídes Susana Fojo, Löhr Alfredo
Unidade de Neurologia Infantil Pequeno Príncipe, Hospital Pequeno Príncipe, Curitiba, PR, Brasil.
Arq Neuropsiquiatr. 2006 Dec;64(4):1023-6. doi: 10.1590/s0004-282x2006000600027.
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.
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.
伴有生殖器模糊的X连锁无脑回畸形（XLAG）是一种最近发现的由无尾相关同源框（ARX）基因（Xp22.13）突变引起的遗传性疾病。患者表现为无脑回畸形、胼胝体发育不全、新生儿期难治性癫痫、后天性小头畸形以及具有生殖器模糊的男性基因型。
健康非近亲父母的第二个孩子，在出生后第一小时内出现癫痫发作，对苯巴比妥、苯妥英钠和咪达唑仑治疗无效。检查发现小头畸形、轴性肌张力减退、锥体束征和生殖器模糊。脑电图显示背景活动紊乱，癫痫发作始于右侧颞中部、中央和枕叶区域。磁共振成像显示弥漫性巨脑回、皮质中度增厚、脑室扩大、胼胝体和透明隔发育不全。核型显示为46,XY基因型。其他发现包括高钙尿症、膀胱输尿管反流、动脉导管未闭和慢性腹泻。
