A case of persistent pulmonary hypertension in a newborn with Costello syndrome

摘要

A baby boy, the third child of a nonconsanguineous Congolese couple was born at 37 weeks gestation weighing 3.6 kg. Pregnancy was complicated by polyhydramnios leading to induction of labor. He was in good condition at birth (Apgars 8_1, 9_5), however at 15 min he rapidly developed severe respiratory distress necessitating intubation and ventilation. Persistent pulmonary hypertension (PPHN) was diagnosed on the basis of echocardiographic findings and the absence of other cardiopulmonary pathology. The baby was also noted to have coarse features and lax skin. Ventilatory requirements lessened over the first few days and extubation was attempted on day 3 but failed because of upper airway collapse. He was successfully extubated on day 7. He made slow progress especially with feeding and was eventually discharged at the age of 1 month still requiring tube feeds.At 4 months the baby was represented to hospital with a history of rapid onset respiratory failure secondary to severe left sided lung collapse and consolidation (Fig. 1). He required intubation and ventilation. On the basis of typical facial features, lax skin, deep palmar, and plantar creases (Figs 2 and 3) and the history of severe failure to thrive he was clinically diagnosed with Costello syndrome (CS).Ventilatory requirements were reduced within a short time but extubation failed on two occasions because of upper airway collapse. A tracheostomy was sited which remains in situ at 1 year of age.