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Titolo: Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Fourty-two Neonatal Onset Cases
Data di pubblicazione: 2019
Abstract: 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 PHOX2B gene on chromosome 4p12.3. CCHS represents an autonomic nervous system disorder; its more fearsome manifestation is central hypoventilation, due to a deficient response of chemoreceptors to hypercapnia and hypoxia. Several associated symptoms can occur, such as pupillary anomalies, arrhythmias, reduced heart rate variability, esophageal dysmotility, structural comorbidities (Hirschprung's Disease or neural crest tumours). CCHS typical onset is during neonatal period, but cases of delayed diagnosis have been reported; moreover, there are both sporadic or familiar cases. In preterm newborns, asphyxia and typical prematurity-related findings may overlap CCHS clinical manifestations and make harder to formulate a correct diagnosis. The early recognition of CCHS allows an appropriate management, useful to reduce immediate and long- term damage.
Tipologia:1.1 Articolo in rivista

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