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.

Arthrogryposis, renal dysfunction and cholestasis syndrome.

We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dysfunction from a Saudi family with 2 other siblings and 3 cousins who possibly died with a similar clinical picture. We also document for the second time in literature other findings in this syndrome including cerebral abnormalities (hypoplastic corpus callosum), congenital heart disease and nerve deafness. We suggest that some of these cases might benefit from ursodeoxycholic acid therapy. We believe that this autosomal recessive disorder is possibly under-diagnosed in this region with a high consanguineous marriage rate.

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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Anaesthetic-induced ventricular tachyarrhythmia in Jervell and Lange-Nielsen syndrome.

A four-year-old deaf girl with a history of convulsions developed polymorphous ventricular tachycardia during induction of anaesthesia. The arrhythmia reverted to sinus rhythm spontaneously. Post-anaesthetic ECG showed marked prolongation of the QTc interval (570-690 msec). Deafness and prolonged QTc interval in association with microcytic-hypochromic anaemia confirmed the diagnosis of the Jervell and Lange-Nielsen syndrome. This case report highlights the potentially lethal complication of halothane anaesthesia in patients with long QTc interval syndrome.

Epilepsy and other convulsive disorders in Saudi Arabia: a prospective study of 1,000 consecutive cases.

The pattern of epilepsy and other convulsive disorders in 1,000 consecutive Saudi nationals is described. These disorders were common with a hospital frequency rate of 8 per 1,000. Men were more frequently affected than women and 60% of the patients were under 10 years old at the onset of their illness. The epilepsies were the commonest type (74%). Febrile convulsions (20%) presented mainly between the ages of one and five years. Isolated seizures (3%) and acute symptomatic convulsions (3%) were uncommon. In the epileptic group, generalised seizures (71%) were more frequent than partial (29%) and complex partial seizures occurred mainly in those above 21 years old. Absences (4%), infantile spasms (3%) and atonic seizures (3%) were uncommon. No specific etiology of the epilepsy was determined in the majority of the cases (63%). The identified major etiologic factors of the epilepsies were perinatal encephalopathy (21%), cerebral trauma (11%), sequelae of meningitis or encephalitis (2%), brain tumors (0.5%), and vascular lesions such as stroke and arteriovenous malformation. Perinatal encephalopathy accounted for 40% of the epilepsies in children less than 5 years old, and trauma for 20% of those above 20 years old. A family history of epilepsy in close relations was obtained in 23% of the cases, and the consanguinity rate among the parents was 53%. The high incidence of associated perinatal encephalopathy found in this study suggests that perinatal factors play a major role in the pathogenesis of epilepsy in Saudi Arabia. The high frequency of cerebral trauma was also striking. Although consanguinity of the parents appeared not to be a major factor in the genetics of convulsive disorders in this environment, it might have potentiated the tendency of familial aggregation of convulsive disorders in this community. Consanguinity may be an important factor in the production of some of these disorders but its precise role has not been determined.