A male neonate is born at 38 weeks’ gestation via elective cesarean section to a 28-year-old gravida 4, para 3 woman. The neonate’s parents are first-degree cousins without a significant family history. The maternal history is unremarkable. She received antenatal care at a polyclinic and the scan obtained at approximately 24 weeks’ gestation is normal. She presented to the emergency department at 36 weeks’ gestation with a history of decreased fetal movement and was later admitted to the labor and delivery unit for evaluation. The maternal laboratory findings are as follows: hepatitis B, negative; group B Streptococcus , negative; blood type, O positive; antibodies, negative. Bedside ultrasonography shows macrocephaly with a large calcified central intracranial heterogeneous mass of peculiar vascularity measuring 7.74 × 6.55 × 8.37 cm3 in the midline supratentorial region, replacing brain tissue with thinning of the brain parenchyma. The infratentorial structure is normal and no other fetal abnormalities are seen (Fig 1). The mother refused fetal magnetic resonance imaging (MRI). Figure 1. Antenatal ultrasonography of the fetal head showing macrocephaly, with a head circumference of 39.73 cm (yellow arrow) and a large irregular calcified central intracranial heterogeneous mass (red stars) with peculiar vascularity (green arrow). At delivery, the neonate’s Apgar scores are 7 and 9 at 1 and 5 minutes, respectively. His vital signs are stable (temperature, 98°F [36.7°C]; heart rate, 150 beats/min; respiratory rate, 60 breaths/min; blood pressure, 66/41 mm Hg; oxygen saturation, 94%), but an initial newborn examination reveals macrocephaly with separated sutures, sunset eyes, skin peeling over the head, and no other obvious dysmorphic features (Fig 2). Figure 2. Macrocephaly with sunken eyes (anteroposterior/lateral view). The infant’s birthweight is 4,130 g (88th percentile), length 56 cm (99th percentile), and head circumference 48 …
