Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases | Bentham Science

摘要

Congenital Central Hypoventilation Syndrome (CCHS), also referred with the expression“Ondine’s Curse”, is a rare genetic life-long disease resulting from the mutation of PHOX2Bgene on chromosome 4p12.3. CCHS represents an autonomic nervous system disorder; its morefearsome manifestation is central hypoventilation, due to a deficient response of chemoreceptors tohypercapnia and hypoxia. Several associated symptoms can occur, such as pupillary anomalies, arrhythmias,reduced heart rate variability, esophageal dysmotility, and structural comorbidities(Hirschsprung’s Disease or neural crest tumours).CCHS typical onset is during the neonatal period, but cases of delayed diagnosis have been reported;moreover, both sporadic or familial cases can occur.In preterm newborns, asphyxia and typical prematurity-related findings may overlap CCHS clinicalmanifestations and make it harder to formulate a correct diagnosis.The early recognition of CCHS allows appropriate management, useful to reduce immediate andlong- term consequences.