Nanba Yukiko, Oka Akira, Ohno Kousaku
Division of Child Neurology, Institute of Neurological Sciences, Tottori University School of Medicine, Yonago, Tottori.
No To Hattatsu. 2007 May;39(3):206-9.
X-linked lissencephaly with absent corpus callosum and abnormal genitalia (XLAG) is caused by a mutation in the ARX gene. We herein report the clinical course of siblings with XLAG with a splicing mutation in ARX. Seizures were observed in utero. Cerebral atrophy was progressive postnatally, and fetal echoencephalography indicated that the atrophy might have started in the prenatal period. They had a typical phenotype, except that the genital abnormality of the younger brother was not remarkable. A portal-systemic shunt that has not been reported in cases with XLAG was seen in the older brother. The siblings had the different complications and severity of disease in spite of possessing the same mutation.
伴有胼胝体缺如和生殖器异常的X连锁无脑回畸形（XLAG）由ARX基因突变引起。我们在此报告了患有ARX剪接突变的XLAG同胞的临床病程。在子宫内观察到癫痫发作。出生后大脑萎缩呈进行性发展，胎儿超声脑图显示萎缩可能在产前就已开始。他们具有典型的表型，只是弟弟的生殖器异常不明显。在哥哥身上发现了XLAG病例中尚未报道的门体分流。尽管这对同胞拥有相同的突变，但他们的并发症和疾病严重程度有所不同。
