Carmi-Nawi Nirit, Malinger Gustavo, Mandel Hanna, Ichida Kimiyoshi, Lerman-Sagie Tally, Lev Dorit
Child Development Center, Macabi Health Services, Bnei-Brak, Israel.
J Child Neurol. 2011 Apr;26(4):460-4. doi: 10.1177/0883073810383017. Epub 2011 Jan 31.
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.
钼辅因子缺乏症是一种罕见的常染色体隐性疾病，可能在新生儿期出现难治性癫痫发作，并被误诊为缺血性脑病。我们描述了一名患者，其孕35周时的产前超声检查显示弥漫性脑损伤，伴有多个皮质下空洞、脑室扩大、胼胝体发育不全以及小脑发育不全伴枕大池扩大。后来的磁共振成像（MRI）显示脑萎缩，以及伴有小脑蚓部和小脑发育不全的多囊性脑软化。10个月时的神经学检查显示小头畸形、严重智力发育迟缓及痉挛。尿酸水平低，尿液中牛磺酸和黄嘌呤增加。亚硫酸盐试验呈阳性。确诊为钼辅因子缺乏症。成纤维细胞中的亚硫酸盐氧化酶活性检测不到。该患者被发现MOCS1基因的251 - 418del位点为纯合子。这是首次对钼辅因子缺乏症中严重脑破坏的产前发育情况进行描述。
