title: Neurally adjusted ventilatory assist (NAVA) mode as an adjunct diagnostic tool in congenital central hypoventilation syndrome.
abstract: A full term female newborn was admitted to the neonatal intensive care unit (NICU) for continuous observation of apnea. Infant was noted to have apnea while asleep requiring intubation and mechanical ventilation. A video EEG was performed which demonstrated normal awake background without any seizure activity. Neurally adjusted ventilatory assist (NAVA) demonstrated the absence of electrical activity of the diaphragm (Edi) when the patient was in quiet phase of sleep. This finding on NAVA monitor raised the suspicion of central hypoventilation syndrome (CCHS) which was confirmed by genetic identification of the PHOX2B mutation.
authors: Department of Paediatrics, Tawam Hospital in association with Johns Hopkins Medicine, Al Ain, United Arab Emirates.
authors: Aiman
authors: A
authors: Rahmani
authors: Naveed
authors: N
authors: Ur Rehman
authors: Fares
authors: F
authors: Chedid
mesh_terms: D003964:Diaphragm / Q000502:physiology*; D004576:Electromyography; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D059725:Interactive Ventilatory Support / Q000379:methods*; D008991:Monitoring, Physiologic; D015656:Respiratory Mechanics / Q000502:physiology*; D020182:Sleep Apnea, Central / Q000175:diagnosis*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors