Sen diagnostik af Ondines forbandelse hos en toårig pige
Sammanfattning
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.