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 SUMMARY: This 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,…
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