Congenital Central Hypoventilation Syndrome (Ondine’s Curse): Clinical Case

Abstract

Background . Congenital central hypoventilation syndrome (CCHS), or Ondine’s Curse, is rare, incurable and life-threatening disease characterized by autonomic nervous system disorders, it manifests with disability to maintain ventilation function during sleep. Sensitivity to hypoxia and hypercapnia is reduced in case of CCHS, thus, it leads to recurrent episodes of deep apnea. The world literature describes just over 1000 cases of this disease. Clinical case description . An infant born at 37th week of gestation, weight of 3330 g, had episodes of apnea and hypercapnia from the first day of life. CCHS was suspected by the 28th day of life after excluding other causes of respiratory disorders, and it was genetically confirmed by the 43rd day of life — pathogenic variant of PHOX2B gene was revealed. Mechanical ventilation has been initiated by the age of 1 month after disease worsening. Analysis of CCHS cases published in Russian-language medical literature was performed. Typical symptoms and timing of their manifestation, as well as the time before correct diagnosis were mentioned. Conclusion . Symptoms that can be suggestive of CCHS presence early after birth and can urge to perform all the necessary genetic testing that are crucial for timely treatment onset and for minimizing the negative effect of hypoxemia and hypercapnia on the child are described.