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Abstract
Six infants with congenital alveolar hypoventilation syndrome (CCHS) were seen and observed over several years. Two had an association of CCHS with Hirchsprung's disease. All infants were treated by tracheostomy and mechanical ventilation. Three infants have survived (including one with CCHS and Hirchsprung's disease). However, all survivors have required frequent rehospitalization. The infant with the longest survival (now 4 years of age) has developed significant daytime problems involving the "behavioral control" of ventilation. One infant was considered as a "near miss for sudden infant death syndrome" and became significantly symptomatic after establishment of delta (stage 3-4 non-rapid eye movement) sleep, which normally develops between 2 and 4 months of age. CCHS involves autonomic nervous system dysfunction, and the question of a defect involving the integration of chemoreceptor information more than a direct defect of the central chemoreceptor is discussed.
View details for Web of Science ID A1982PQ19700004
View details for PubMedID 7133818