1321 Unraveling the Mystery: Three Cases of Acquired Central Hypoventilation Syndrome

Abstract Introduction Central hypoventilation syndrome (CHS), also known as Ondine’s curse, is a rare disorder in which alveolar hypoventilation occurs due to failure in autonomic control of ventilation while voluntary control remains intact. Acquired CHS is usually caused by injury to the medulla oblongata and pons either via trauma, stroke, hypoxia, tumors, encephalitis, or neurodegenerative conditions. In acquired cases, the presentations differ depending on the degree and location of damage to the central respiratory centers. We present three cases of acquired CHS and review management as it differs from congenital causes. Report of case(s) A 55-year-old female with heart failure, coronary artery disease, type 2 diabetes, and prior stroke with residual left-sided deficit, presented with symptomatic occlusion of the left V4 segment of the vertebral artery leading to ischemic stroke involving the dorsal left medulla. She was intubated for airway protection and acute hypoxia in the setting of aspiration. Following successful extubation, she suffered a cardiac arrest precipitated by hypoxia associated with prolonged apnea. Subsequent MRI demonstrated evolution of prior stroke. Spontaneous breathing trials were aborted due to recurrent apneas, and she underwent a tracheostomy to facilitate long-term mechanical ventilation. A 66-year-old male presented with progressive gait disturbance and dysarthria from a pontomedullary cavernoma and required surgical resection after failed conservative management. Following surgery, he developed CHS, with several complications including chronic hypoxic and hypercapnic respiratory failure, cardiopulmonary arrests, autonomic dysfunction, and recurrent infections. He failed a therapeutic trial of stimulants, underwent a tracheostomy, was discharged home with near continuous mechanical ventilation, and was referred for consideration of phrenic nerve pacing. A 76-year-old male presented with late-onset CHS and bulbar weakness, which led to respiratory failure and the placement of a tracheostomy. Recurrent prolonged apneas prevented weaning from invasive ventilation, ultimately resulting in a diagnosis of Parkinson’s disease with rare neurodegenerative involvement of the brainstem. He is maintained on nocturnal invasive mechanical ventilation. Conclusion We review these cases of acquired CHS and the management considerations. Current literature supports trials of stimulants or consideration of phrenic pacing as an adjunct to mechanical ventilator support, but comorbid bulbar and autonomic dysfunction limits application of guidance in acquired cases. Support (if any)