Infantile free sialic acid storage disease presenting as non-immune hydrops fetalis

A preterm, 33 weeks of gestational age, was antenatally diagnosed with hydrops fetalis. There is positive family history of two early neonatal death of unknown cause on his maternal side. He had generalized edema, massive ascites, blonde hair, unexpectedly fair skin, coarse facies, telangiectasia over the trunk, abdomen, and face. Abdominal paracentesis showed no urine, no bilirubin and no chylous fluid. Several clinical investigations ruled out the most common diagnoses. Finally, genetic analysis by whole exome sequencing showed a homozygous splicing site c.979-1G>T mutation in SLC17A5 gene causing infantile free sialic acid storage disease. Both parents were found to be heterozygous. Despite all supportive measurements, the baby died at the age of 6 months

Association of Umbilical venous catheters vs peripherally inserted central catheters With Death or Severe Intraventricular Hemorrhage Among Preterm Infants < 30 weeks A Randomized Clinical Trial

Abstract Umbilical venous catheters (UVCs) are routinely inserted in preterm infants for total parenteral nutrition, medications, and blood sampling. The unique course of the umbilical vein, and the associated hemodynamic instability during sampling or infusion via UVCs place preterm infants at a higher risk of intraventricular hemorrhage (IVH). Alternative central line placement would theoretically avoid the swinging of cerebral blood flow and reduce chances of IVH development.PURPOSE To examine whether the rates of severe IVH or death vary among preterm infants receiving UVCs compared to peripherally inserted central catheters (PICCs).METHODS This randomized, controlled unmasked trial was conducted at the neonatal intensive care unit of Dubai Hospital between January 2018 and December 2021. A total of 280 preterm infants (born at 23-30 weeks gestation) were randomly assigned after birth to either the UVC placement group or the PICC group. MAIN OUTCOMES AND MEASURES The primary outcome was a composite of severe IVH or death among preterm infants less than 30 weeks gestation with UVC vs PICC. The secondary outcomes were the incidence of neonatal sepsis, necrotizing enterocolitis, any grade of IVH, and feeding intolerance.RESULTS Among the 223 preterm infants randomized (median gestational age, 27 weeks [interquartile range, 26-29]; male: UVC group, 59 [49%]; PICC group, 63 [61%]), 120 (53%) were randomized to the UVC group and 103 infants (47%) were randomized to the PICC group. Severe IVH occurred in 16 infants (13.3%) in the UVC group and 11(10.7%) in the PICC group (risk difference [RD], 2.6% [95% CI, -5.9 to 11.1]; P = 0.55). The incidence of death before 28 days of life did not differ significantly between groups (10 [8.3%] in UVC vs 6 [5.8%] in PICC; RD, 2.5% [95% CI, −4.1% to 9.1%]; P = 0.47). Sixteen percent (20/120) of the UVC group died or developed severe IVH compared with 13% (14/103) of the PICC group (risk difference, 1.7% [95% CI, −7.3% to 10.9%]; P = 0.57). Logistic regression analysis showed that gestational age rather than birth weight and early inotropic support were significant risk factors for severe IVH occurrence in preterm infants [OR= 0.75, (95% CI, 0.58-0.99); p=0.042], and [OR= 3.15, (95% CI, 1.18-8.38); p=0.022]. The incidence of necrotizing enterocolitis was significantly higher in the UVC group infants than in the PICC group infants (7.5% vs. 2%); p = 0.04.CONCLUSION This study found that the incidence of severe IVH or death did not differ significantly among preterm infants &lt;30 weeks gestation subjected to UVC or PICC placement. Gestational age rather than birth weight and early inotropic support were significant risk factors for the development of severe IVH. Umbilical venous catheter is an additional risk factor for the development of NEC, but further research is required to validate this finding.TRIAL REGISTRATION ANZCTR Identifier: ACTRN12617001049369.</jats:p