Crouzon syndrome: Association with absent pulmonary valve syndrome and severe tracheobronchomalacia

Airway obstruction is common among patients with craniosynostosis. We describe an infant with a clinical and genetic diagnosis of Crouzon syndrome who presented with respiratory distress and heart murmur in early neonatal life. Cardiac evaluation revealed absent pulmonary valve syndrome. She needed intubation at age 1 month, and repeated trials of extubation failed because of marked respiratory distress, stridor, and severe expiratory obstruction and wheezing. Correction of her cardiac anomaly did not relieve her respiratory distress; only after endobronchial stenting and tracheostomy was it possible to gradually wean her from mechanical ventilation. This case report demonstrates and discusses the different causes of airway obstruction in Crouzon syndrome and the morbidity and mortality that can result from pulmonary involvement in this craniosynostotic syndrome. It also demonstrates the difficult therapeutic challenge created by the combination of cardiopulmonary abnormalities in Crouzon patients.