Acetazolamide as a therapeutic alternative for central sleep apnea in pediatric patient with FBXO28 gene mutation: A case report and review of literature

Abstract

Central sleep apnea (CSA) is a significant concern in children with neurodevelopmental disorders and genetic syndromes, where conventional treatments such as bilevel positive airway pressure (BiLevelPAP) therapy may be poorly tolerated. Acetazolamide, a carbonic anhydrase inhibitor, is an alternative treatment that induces a metabolic acidosis, which may help stabilize respiratory disturbances by enhancing ventilatory drive. However, evidence regarding its use in pediatric populations remains limited. We report the case of a 12-year-old male with an FBXO28 gene-related disorders with significant CSA. Due to intolerance to BiLevelPAP therapy, a trial of acetazolamide was initiated. The dose was adjusted to maintain a mild metabolic acidosis, with regular blood work and clinical monitoring to assess for potential side effects. Follow-up polysomnography (PSG) demonstrated significant improvements in the central apnea-hypopnea index (CAHI) and periodic breathing. No significant adverse effects were reported, and the family noted a substantial improvement in quality of life. Brief summaryThis case highlights that maintaining a mild metabolic acidosis with acetazolamide is sufficient to stimulate respiratory drive and stabilize breathing in pediatric CSA, while minimizing risks of electrolyte imbalances and long-term renal consequences. Our findings align with existing literature, which indicates that acetazolamide may be effective for CSA without hypoventilation in children, particularly those with genetic syndromes. Further research is necessary to establish standardized treatment protocols, optimal dosing, and long-term safety.