title: Prenatal brain disruption in molybdenum cofactor deficiency.
abstract: 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.
authors.affiliation: Child Development Center, Macabi Health Services, Bnei-Brak, Israel.
authors.forename: Nirit
authors.initials: N
authors.lastname: Carmi-Nawi
authors.forename: Gustavo
authors.initials: G
authors.lastname: Malinger
authors.forename: Hanna
authors.initials: H
authors.lastname: Mandel
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Ichida
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
mesh_terms: D001921:Brain / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008664:Metal Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000473:pathology; D008983:Molybdoferredoxin; D018608:Ultrasonography, Doppler; D016216:Ultrasonography, Prenatal / Q000379:methods
chemical_list: D008983:Molybdoferredoxin