ABSTRACT
Neonatal respiratory distress (NRD) is a common neonatal problem, which is responsible for high morbidity and mortality. There are few published studies in developing countries addressing neonatal respiratory distress. There is no previously published study in Sudan on this problem. The objective of the study is to determine the frequency, different causes, immediate outcome. It was a prospective, descriptive, cross sectional hospital-based study which was carried out in neonatal intensive care unit (NICU) of Omdurman Maternity Hospital, between February-March 2013. The study enrolled all Sudanese newborns from 0-28 days including normal, low and high birth weight of different gestational ages admitted to the neonatal intensive care unit and diagnosed as neonatal respiratory distress. The frequency of NRD was calculated, the causes and immediate outcome were determined. Results showed that the frequency rate of NRD was (4.83%) among the total number of hospital (2071) live births during the period of the study. The commonest causes were transient tachypnoea of the newborn (TTN) in 28% of cases, sepsis in 24% of cases and hyaline membrane disease (HMD) in 15% of cases. The outcome of NRD was: cure in 56% of cases, death in 36% of cases, and patients discharged with complications in 8% of cases. In conclusion, the study confirmed the importance of NRD with a frequency rate of 4.83%, morbidity of 8% and mortality of 36% of cases. The causes and immediate outcome were determined and discussed. Some recommendations were suggested in order to reduce its frequency, morbidity and mortality.
ABSTRACT
Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal period. She had subtle dysmorphic features. Liver function tests were impaired with raised liver enzymes, conjugated and unconjugated hyperbilirubinemia. CT of the brain showed diffuse bilateral changes. She developed seizures with an abnormal EEG. Plasma very long chain fatty acid analysis showed high C26:0 levels and increasedC26:0/C22:0 and C24:0/C22:0 ratios, which is consistent with a PBD. Studies in fibroblasts including plasmalogen biosynthesis, peroxisomal fatty acid alfa and beta oxidation confirmed the diagnosis of PBD. Immunofluoresence microscopy revealed the absence of peroxisomes in fibroblasts. The patient was assigned to the PEX19 complementation group. Subsequent mutation analysis of the PEX19 gene revealed homozygosity for a c.320delA frameshift mutation. The patient had a stormy course with multiple admissions to the pediatric intensive care unit with pneumonia, liver impairment, sepsis, and epilepsy. At 1 year of age she developed metabolic acidosis with normal anion gap, proteinuria, aminoaciduria, and glucosuria consistent with a renal tubular defect. Abdominal ultrasound showed multiple gallstones. Other causes of gallstones like haemoglobinopathy were excluded. So far, only two siblings had been reported with mutations in the PEX19 gene. Our patient showed a previously unrecognized association of gallstones and a renal tubular defect with a PBD.
