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.

Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.

We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q.

Rubinstein Taybi syndrome and lymphoblastic leukemia.

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Congenital chloride diarrhoea: case report and review of the literature.

Congenital chloride diarrhoea (CCD) usually presents with abdominal distension, visible peristalsis and watery stools from birth that show chloride loss of more than 90 mmol/l. It may mimic low intestinal obstruction on antenatal ultrasound scanning after 30 weeks' gestation. This condition has been reported mainly from Finland. We report a case of CCD in a Saudi boy which was suspected antenatally, confirmed post-natally and managed successfully.

Half a decade of neonatal sepsis, Riyadh, Saudi Arabia.

In a retrospective study to determine the pattern of neonatal sepsis, all cases admitted to the Neonatal Intensive Care Unit (NICU) between October 1983 and July 1988 at King Khalid University Hospital, in Riyadh were studied. During the review period there were a total of 2117 admissions to the NICU. Of those 1252 (59 per cent) underwent septic screening sometimes during their stay in the NICU. The number of babies with proven bacteremia, i.e.; positive blood and or cerebrospinal fluid culture was 190 (15 per cent). Gram-positive organisms were cultured from 132 (69 per cent) and Gram-negative organisms from 47 (25 per cent) of the babies. The single most frequent organism was Staphylococcus epidermidis accounting for 36 per cent (58/190) of all proven cases. These results differ appreciably from other studies reported previously from Riyadh as well as from some other parts of the world, and stress the need to recognize Staphylococcus epidermidis as an increasingly important pathogen in the newborn nursery.