Prenatal Brain Disruption in Molybdenum Cofactor Deficiency
Prenatal Brain Disruption in Molybdenum Cofactor Deficiency
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DOI：
10.1177/0883073810383017
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发表时间：
2011-04-01
影响因子：
1.9
通讯作者：
Lev, Dorit
中科院分区：
文献类型：
--
作者：
Carmi-Nawi, Nirit;Malinger, Gustavo;Lev, Dorit
钼辅因子缺乏症是一种罕见的常染色体隐性遗传疾病，可能出现在新生儿期与顽固性癫痫发作，并被误认为缺血性脑病。我们描述了一个病人的产前超声检查在35周的妊娠显示弥漫性脑损伤与多个皮质下腔，脑室扩大，发育不全的胼胝体，小脑发育不全，扩大枕大池。磁共振成像（MRI）后来发现脑萎缩，多囊性脑软化与发育不全的蚓部和小脑。10个月时的神经系统检查显示小头畸形、深度智力低下和痉挛。尿酸低，尿中牛磺酸和黄嘌呤增加。亚硫酸盐检测呈阳性。诊断为钼辅因子缺乏症。成纤维细胞中亚硫酸盐氧化酶活性未检测到。发现患者为MOCS 1基因中251- 418 del的纯合子。这是第一次描述的产前发展严重的脑破坏钼辅因子缺乏症。
Molybdenum cofactor deficiency is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures and be mistaken for ischemic encephalopathy. We describe a patient whose prenatal sonography at 35 weeks' gestation revealed diffuse brain damage with multiple subcortical cavities, ventriculomegaly, dysgenesis of the corpus callosum, and a hypoplastic cerebellum with an enlarged cisterna magna. Magnetic resonance imaging (MRI) later revealed brain atrophy, and multicystic encephalomalacia with hypoplastic vermis and cerebellum. Neurological examination at 10 months showed microcephaly, profound mental retardation, and spasticity. Uric acid was low, and taurine and xanthine were increased in the urine. A sulfite test was positive. The diagnosis of molybdenum cofactor deficiency was made. Sulfite oxidase activity in fibroblasts was undetectable. The patient was found to be homozygous for the 251-418del in the MOCS1 gene. This is the first description of the prenatal development of severe brain disruption in molybdenum cofactor deficiency.