Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant.

Activating mutation of PIK3CA is linked with cases of overgrowth syndromes and belongs to the PIK3CA-related overgrowth spectrum (PROS). Mutations in this gene are associated with vascular malformations, brain abnormalities, and an increased risk for certain tumors. We report the case of a newborn girl, preterm at 34 weeks of gestation, referred to our center for atypical necrotizing enterocolitis (NEC). At laparotomy, the appearance of the intestinal tract was described as puffy, cauliflower-like with a dark purplish coloration. Subsequently, the colostomy was described as having a consistent proliferative appearance. Medical treatment with sirolimus resulted in minimal improvement. There are no reported cases in the literature of association between NEC and PIK3CA mutation. It is possible that PIK3CA mutation, including the related vascular anomalies, plays a role in the pathogenesis of NEC with this condition.

Exposure to Maternal Diabetes during Pregnancy Is Associated with Aggravated Short-Term Neonatal and Neurological Outcomes following Perinatal Hypoxic-Ischemic Encephalopathy.

OBJECTIVE: Infants of diabetic mothers (IDM) are at higher risk of perinatal morbidities and glycemic instability, but the impact of maternal diabetes on neonatal and neurological short-term outcomes of neonates with hypoxic-ischemic encephalopathy (HIE) remains poorly described. Our objective was to determine the impact of maternal diabetes on neonatal and neurological short-term outcomes following neonatal HIE. STUDY DESIGN: This was a retrospective single-center study including 102 term neonates with HIE who received therapeutic hypothermia (TH) treatment between 2013 and 2020. Multiple regression analysis was used to assess the relationship between the presence of maternal diabetes and short-term outcomes. RESULTS: Neonates with HIE and maternal diabetes exposure had a significantly lower gestational age at birth (38.6 vs. 39.7 weeks of gestation, p = 0.005) and a significantly higher mean birth weight (3,588 ± 752 vs. 3,214 ± 514 g, p = 0.012). IDM with HIE were ventilated for longer duration (8 vs. 4 days, p = 0.0047) and had a longer neonatal intensive care unit (NICU) stay (18 vs. 11 days, p = 0.0483) as well as took longer time to reach full oral feed (15 vs. 7 days, p = 0.0432) compared with neonates of nondiabetic mother. Maternal diabetes was also associated with an increased risk of death or abnormal neurological examination at discharge in neonates with HIE (odds ratio: 6.41 [1.54-26.32]). CONCLUSION: In neonates with HIE, maternal diabetes is associated with an increased risk of death or short-term neonatal morbidities, such as longer duration of ventilation, prolonged neonatal stay, greater need for tube feeding, and being discharged with an abnormal neurological examination. Strategies to prevent, reduce, or better control maternal diabetes during pregnancy should be prioritized to minimize complications after perinatal asphyxia. KEY POINTS: · Maternal DB is associated with unfavorable outcomes.. · IDM have longer ventilatory support and tube feeding.. · IDM have higher risk of abnormal neurological examination..