Ugeskr Læger 2015;177:V04150352
Congenital central hypoventilation syndrome diagnosed in a two-year-old girl
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by inadequate response to hypoxia and hypercapnia and life-threatening alveolar hypoventilation most pronounced during sleep. It is associated with other disorders of neural crest origin and of autonomic dysfunction. Usually the diagnosis is made in the neonatal period. We describe a case where a two-year-old girl had respiratory failure during the first week of her life and CCHS was suspected but followed by spontaneous recovery and a two-year period without symptoms.