Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.

We ascertained a patient with the full-blown phenotype of isolated sulfite oxidase deficiency in a consanguineous Arab family. The proband's phenotype included the presence of intractable seizures in the neonatal period, some dysmorphic features, neuroradiologic findings reminiscent of hypoxic ischemic encephalopathy and rapidly progressive brain destruction leading to severe neurodevelopmental impairment. Biochemically, the patient excreted a large amount of S-sulfocysteine with normal amounts of xanthene and hypoxanthine and had normal plasma uric acid, which was consistent with isolated sulfite oxidase deficiency. We report the identification of the first Arab mutation in SUOX, the gene for sulfite oxidase enzyme, in the ascertained family. The newly identified Arab mutation in the SUOX gene (a single nucleotide deletion, del G1244) is predicted to cause a frame shift at amino acid 117 of the translated protein with the generation of a stop codon and total truncation of the molybdo-pterin- and the dimerizing-domain(s) of SUOX protein expressed from the mutant allele. The identification of this new Arab SUOX mutation should facilitate pre-implantation genetic diagnosis and selection of unaffected embryos for future pregnancy in the ascertained family with the mutation and related families with the same mutation.

Intravenous immunoglobulin G (IVIG) therapy for significant hyperbilirubinemia in ABO hemolytic disease of the newborn.

BACKGROUND: Although intravenous immunoglobulin G (IVIG) therapy has been reported in hyperbilirubinemia of Rh hemolytic disease, its use in ABO hemolytic disease has been reported in only a few studies. In our institute we have observed that almost 30% of babies with hyperbilirubinemia due to ABO hemolytic disease required exchange transfusion. OBJECTIVE: To determine whether administration of IVIG to newborns with significant hyperbilirubinemia due to ABO hemolytic disease would reduce the need for exchange transfusion as a primary goal in these babies. DESIGN: This was a prospective study involving all newborns with significant hyperbilirubinemia due to direct Coombs-positive ABO hemolytic disease. METHODS: All healthy term babies with ABO hemolytic disease with positive direct Coombs test in the period between 2000 and 2002 were identified. Significant hyperbilirubinemia was defined as hyperbilirubinemia requiring phototherapy and/or rising by 8.5 micromol/l per h (0.5 mg/dl per h) or more to require exchange transfusion. Babies were randomly assigned into two groups: group 1 (study group) received phototherapy plus IVIG (500 mg/kg); and group 2 (control group) received phototherapy alone. Exchange transfusion was carried out in any group if at any time the bilirubin level reached 340 micromol/l (20 mg/dl) or more, or rose by 8.5 micromol/l per h (0.5 mg/dl per h) in group 2. RESULTS: A total of 112 babies were enrolled over 2 years, 56 in each group. Exchange transfusion was carried out in four babies in the study group, while 16 babies in the control group required exchange. Late anemia was not of concern in either group. No adverse effects related to IVIG administration were recorded. CONCLUSION: Administration of IVIG to newborns with significant hyperbilirubinemia due to ABO hemolytic disease with positive direct Coomb's test reduces the need for exchange transfusion without producing immediate adverse effects.

Gastric perforation. An unusual cause of ascites in a newborn baby.

We report a case of a low birth weight asymmetrical small for gestational age baby, who presented at the age of 20 hours with sudden abdominal distension. Since birth he has been breastfed and was kept with his mother. Absence of radiological findings of necrotizing enterocolitis or perforation at the time of presentation delayed the diagnosis for 48 hours. At laparotomy the baby was found to have perforation of the stomach with no evidence of other gastrointestinal disorder.

Factors affecting the outcome of foetal hydrocephaly.

In this study, the authors attempt to provide an account of the factors that affect the outcome of hydrocephaly in 26 foetuses. The hydrocephalus was related to a myelomeningocele in 35% of patients. Sixty-two percent of foetuses showed intra-uterine progression of their hydrocephalus and 50% were shunted postnatally. At a mean follow up of 2 years, the outcome was considered "fair" in 54% of patients. Our findings demonstrate that in foetal hydrocephaly a more favourable outcome is expected in patients with hydrocephalus which does not progress in utero, in whom the labour is not induced before 36 weeks of gestation, who are delivered vaginally weighing more than 2.5 kg and have a head circumference below the 95th centile and a CT cortical mantle thickness of 2 cm and more and who are treated by CSF shunting. The diagnosis of the foetal hydrocephaly at or before 28 weeks of gestation and the presence of a myelomeningocele did not affect the outcome significantly. Neurosurgeons are reminded to keep an open mind for infants with foetal hydrocephaly and to offer active treatment to patients with a potentially favourable outcome.