A newborn of unknown gestational age and unknown chronological age was admitted to the neonatal intensive care unit after presenting to the emergency department for evaluation and concern for neglect. The infant was found at home by authorities with no adult caretaker. As part of routine newborn care, this infant was noted to have an abnormal newborn metabolic screen. Subsequent genetic testing confirmed an inborn error of metabolism. When family and social history became available, it was determined that the mother and putative father were genetically related. This case report discusses newborn metabolic screening and inborn errors of metabolism and their relationship to consanguinity.

A 3.5-kilogram infant was born at 40 weeks gestation with an uncomplicated delivery. Prenatal ultrasounds showed echogenic bowel and a ventricular septal defect (VSD), of no clinical significance. Abdominal radiographs showed pneumatosis at 21, 36, and 48 hours of life (HOL). She was treated for necrotizing enterocolitis (NEC) with intravenous antibiotics and parenteral nutrition for 7 days, before working up on feeds and discharging home with breast milk. The only prenatal finding in this case was hyperechogenic bowel, which is a soft marker and often disregarded in the absence of other signs. Chronic intrauterine gut ischemia can cause hyperechogenicity of the bowel. That same intrauterine gut ischemia may have been responsible for NEC in our patient. If a patient has persistent echogenic bowel on prenatal imaging, a critical need exists to make sure NEC is not present.

A 1-day-old late preterm, small-for-gestational-age female presented with a caudal appendage—a rare finding—and abnormalities in all 4 limbs most consistent with amniotic band syndrome. The caudal appendage was lateral to midline, measured 3 cm × 0.5 cm, and had no bony abnormalities or spinal cord tethering. Limb abnormalities consisted of brachydactyly, oligodactyly, and syndactyly. Renal and head ultrasounds and an echocardiogram were normal. Chromosomal microarray showed deletion of EPHA3, which is not associated with a known phenotype. The multidisciplinary approach of managing this infant with the rare finding of a caudal appendage and limb abnormalities is presented.

Necrotizing enterocolitis is a disease process of intestinal disruption which has been associated with gastrointestinal microbial alterations after antibiotic exposure. Treatment guidelines and antibiotic exposure for congenital syphilis have historically been based on limited evidence. This case presents a term infant who developed necrotizing enterocolitis after treatment for congenital syphilis.