MIRAGE Syndrome Enteropathy Responding to Pancrelipase Despite Normal Pancreatic Fecal Elastase: A Case Report.

BACKGROUND Major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome is a rare genetic condition caused by a gain-of-function mutation in the SAMD9 gene. It acts as a growth repressor expressed in the endothelial cells. Pathogenic variants in the SAMD9 gene lead to profound growth-restricting activity intrinsic to the protein, which further reduces cellular proliferation and instigates this growth-limiting condition. Gastrointestinal features include chronic diarrhea, severe diaper rash, and colonic dilatation. Until now, there has been no description of exocrine pancreatic insufficiency as a possible cause of enteropathy in MIRAGE syndrome. CASE REPORT We report a case of MIRAGE syndrome affecting multiple systems in an infant who had severe enteropathy which responded well to porcine-derived pancreatic enzyme supplements despite normal pancreatic fecal elastase level. The infant is being followed up by multidisciplinary teams in our outpatient department. CONCLUSIONS Porcine-derived pancreatic enzyme is beneficial in enteropathy due to MIRAGE syndrome and is worth considering.

Umbilical Venous Catheterization in a Neonate Causing Pleural Effusion.

Pleural effusion is an extremely rare complication in neonates after umbilical venous catheterization that can present with respiratory distress, a neonatal emergency. It needs timely intervention to reduce respiratory distress. We report an interesting and rare case where a term newborn developed right-sided pleural effusion after umbilical venous catheter (UVC) insertion and starting on total parenteral nutrition (TPN). Pleural effusion was confirmed by X-ray and ultrasound and treated with intercostal drainage. The aspirated fluid was TPN, as evidenced by pleural fluid analysis. Pleural effusion resolved after removing the UVC.

Unexplained abdominal distention in a neonate: culprit femoral central venous line extravasation.

Central venous lines are an essential part of neonatal intensive care and are used for infusion of medications and parenteral nutrition (PN). PN is usually given via either peripherally inserted central lines or umbilical venous lines. Occasionally, central venous catheters (CVCs) are inserted in the femoral veins. Extravasation of femoral venous catheter leading to ascites is a rare entity. This report describes the case of a neonate with a femoral CVC, who developed ascites as a result of extravasation of PN. Ascites resolved following the removal of the catheter.

Cerebral near-infrared spectroscopy during transition of healthy term newborns.

BACKGROUND: Values of regional cerebral tissue oxygen saturation (cStO2) have been described during transition of term and preterm infants after birth. However, use of different devices precludes comparison of measurements. OBJECTIVE: To measure cStO2 during transition of term infants using a calibrated 4-wavelength laser light source near-infrared spectroscopy oximeter (FORE-SIGHT) to obtain data that allow comparison with cStO2 of very-low-birth-weight (VLBW) infants using this oximeter and with cStO2 of term infants using different oximeters. METHODS: cStO2 (FORE-SIGHT oximeter), preductal arterial oxygen saturation and heart rate were measured in 46 healthy term infants (n = 20 spontaneous delivery, n = 22 caesarean section, n = 4 assisted vaginal delivery) during the first 10 min after delivery. RESULTS: The median (interquartile range) cStO2 at 2 min after birth was 42% (39-46) after spontaneous delivery, 42% (30-52) after caesarean section and 36% (20-53) after assisted vaginal delivery (no difference between groups). In association with increasing arterial oxygen saturation and heart rate, cStO2 increased continuously and reached a steady state approximately 8 min after birth of 62-77% (interquartile range) in all three groups. CONCLUSIONS: Healthy term newborns had similar cStO2 changes from 2 min after birth regardless of the mode of delivery. cStO2 of healthy term infants was lower than cStO2 of VLBW infants during transition. cStO2 values as measured by the FORE-SIGHT oximeter seem in the range of values as measured by the NIRO 300 oximeter. They were lower than values as measured by the INVOS 5100 oximeter.