A 7-day-old female neonate presents to a local hospital with lethargy, grunting, fast breathing, and abnormal movements after a short history of poor feeding overnight. She was born at 39… Click to show full abstract
A 7-day-old female neonate presents to a local hospital with lethargy, grunting, fast breathing, and abnormal movements after a short history of poor feeding overnight. She was born at 39 weeks’ gestation via cesarean section with a birthweight of 3,100 g to a 34-year-old woman. The parents are nonconsaguineous and the pregnancy was a result of in vitro fertilization with their own gametes. Antenatal screening and scans were normal. Cesarean section was performed because the labor did not progress; the neonate did not need any resuscitation. She nursed with the mother and went home breastfeeding on day 3 after birth. There is no family history of early neonatal deaths or neurologic dysfunction. The neonate is brought to our tertiary neonatal center after stabilization with fluid bolus, broad-spectrum antibiotics, levetiracetam for suspected seizures, and mechanical ventilation. Initial differential diagnosis includes late-onset sepsis with meningitis and inborn error of metabolism with encephalopathy. Examination shows no dysmorphic features or neurocutaneous markers, and the head circumference is 32.6 cm. The infant is stuporous with paucity of spontaneous movements, depressed neonatal reflexes, and hypotonia. She is well perfused with normal heart sounds and femoral pulses and has no oxygen requirement. There is no pallor or jaundice and there is no organomegaly. Arterial …
               
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