Central hypoventilation with cerebellar cortical dystrophy and hypoplasia of arcuate nuclei of brainstem

Summary

A baby boy was emergently delivered through normal spontaneous delivery due to meconium stain of amniotic fluid; his gestational age was 39 weeks, birth body weight 2935 g, head circumference 33 cm, Apgar scores were 6 and 9 at 1 min and 5 min, respectively. After birth, initially the baby behaved vigorously; however, nasal flaring and subcostal retractions occurred later. A chest x ray revealed a ground glass appearance. A nasal prong with intermittent mandatory ventilation was applied initially and was shifted to endotracheal intubation 1 day after birth due to persistent tachypnoea and subcostal retraction. Extubation was performed at the age of 3 days; however, frequent apnoea and arterial oxygen saturation (SaO₂) down to 40% to 50% during sleep were noted and reintubation was performed. Apnoea and desaturation still happened if the ventilator rate was slowed down. A pulmonary function test revealed feeble chest wall motion and small tidal volume (2–3 ml/kg). It was attempted to wean the patient from the ventilator again at the age of 11 days. Unfortunately, the patient’s condition deteriorated suddenly. The baby survived for only 12 days.