Congenital central alveolar hypoventilation syndrome

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by an impaired ventilatory response to hypercarbia and hypoxia, resulting in alveolar hypoventilation during sleep and variably while awake. CCHS is usually caused by sporadic mutations in the paired-like homeobox 2B (PHOX2B) gene, though familial transmission does occur in an autosomal dominant fashion. CCHS is suspected based on clinical symptoms and requires exclusion of a pulmonary neuromuscular, brainstem, or cardiac cause of hypoventilation. The diagnosis is established by demonstration of a PHOX2B mutation. There is no cure for CCHS, and management is supportive with ventilatory care. Other associated conditions can include Hirschsprung's disorder, neural crest tumors, and physiologic symptoms of autonomic insufficiency.