Abstract
Congenital central hypoventilation syndrome (CCHS) is a rare, lifelong disorder of the breathing centre, resulting from a mutation of the PHOX2B gene. CCHS typically manifests in newborns with alveolar hypoventilation/ apnea during sleep.
Clinical severity of hypoventilation and a risk of associated conditions (Hirschsprung disease, tumors of neural crest and autonomic nervous system dysfunction) depend on the type of the PHOX2B gene mutation. Approximately 90% of individuals with the CCHS phenotype are heterozygous for the PARMs-type mutation (Polyalanine Repeat Expansion Mutations), the remaining 10% of patients express heterozygous missense- , nonsense- or frameshift-type mutation (non-PARMs).
Significant hypoventilation leading to severe hypercapnia and hypoxemia was observed in two of our newborns with proved CCHS during the first week after birth. Following a very short period of mechanical ventilation, we succeeded in maintaining physiological blood gases with noninvasive ventilation during sleep.
With modern techniques for home ventilation and follow up at specialized centres, children with CCHS have good long-term prognosis and low mortality.