Abstract
Objective: To describe a case of Central Congenital Hypoventilation Syndrome (CCHS) in an infant. Case details: Infant aged 1 month and 20 days admitted to the emergency unit with a report of perioral and extremity cyanosis triggered by crying and coughing present since birth and progressive worsening in the 7 days prior to admission to the service. Discarded infectious, pulmonary, cardiac etiologies, central nervous system malformations, inborn errors of metabolism, hydroelectrolytic and neuromuscular disorders. Despite continuous sedation and optimized mechanical ventilation, he had frequent episodes of decreased oxygen saturation (StO2) and bradycardia, especially when handled. Control arterial blood gases indicated a significant increase in the partial pressure of carbon dioxide, reaching up to 130, with a maintained pattern, even with normal StO2 and FIO2 close to 100%. The diagnostic hypothesis of congenital central hypoventilation was confirmed by identifying GENE PHOX2B in HETEROZYGOSIS (1 copy), a pathogenic variant of the disease. Final considerations: Early diagnosis and improvements in home ventilation, together with the improvement of methods of cardiorespiratory monitoring and artificial ventilation, have allowed patients to reach adulthood with a satisfactory quality of life. Technological advances in biomedical engineering promise patients greater independence and autonomy.