ABSTRACT

Ondine’s curse Syndrome is a central sleep apnoea syndrome caused by medulla respiratory centre dysfunction, with clinical manifestations such as respiratory dysfunction during wake, difficulty breathing, increased partial pressure of carbon dioxide (PCO₂), sleep apnoea or death during sleep. This paper presents a case of a patient, who was confirmed with the diagnosis after clinical analysis, PCO₂ comparison and tracking two similar cases in the family. Ondine’s curse Syndrome is rare and easily missed, and there is no specific drug treatment. The disease prognosis is poor. The treatment of this disease is difficult and the use of mechanical ventilation and diaphragm pacing therapy might exhibit some short-term efficacy. Drug treatment still needs further study; the long-term effect was still not good.