Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0242706 (hyperoxia)
 5,219 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A five month old boy suffered from primary alveolar hypoventilation, with attacks of apnea during sleep (Ondine's curse syndrome). The ventilation did not increase when PACO2 was increased. However, it decreased during hyperoxia. This indicates a strong peripheral chemoreceptor drive and a dysfunction of the central chemoreception. The infant died from circulatory failure following an aspiration pneumonia. Autopsy revealed the absence of the external arcuate nucleus, which may be involved in the central chemocreception.
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PMID:Primary alveolar hypoventilation (Ondine's curse syndrome) in an infant without external arcuate nucleus. Case report. 49 94