Respiratory abnormalities in Dravet syndrome: insights from a case report and literature review

Abstract

This study investigates the respiratory abnormalities in Dravet Syndrome (DS) through a detailed case report and a narrative literature review. We report the case of a 4-year-old girl, harboring a de novo SCN1A mutation, who exhibited recurrent hypoxemic respiratory failure during febrile infections, not constantly associated with seizures or status epilepticus. In addition, a comprehensive review, including 21 cases, highlights the multifaceted nature of respiratory complications in DS. Notably, severe episodes could occur during common respiratory febrile infections, suggesting an association between DS and increased respiratory risk during febrile illnesses. In fact, the severity and persistence of hypoxemia, even during mechanical ventilation, suggest potential subacute respiratory impairment following seizures and/or infections. The proposed hypothesis of autonomic dysregulation could provide a framework for understanding the intricate relationship between neurological, cardiac, and respiratory functions in DS. This study emphasizes the need for tailored clinical management during febrile illnesses, considering the potential for apnea-related arrhythmias and challenging-to-treat hypoxemia. Further research, including longitudinal studies and advanced physiological monitoring, is crucial for refining our understanding and informing targeted interventions for respiratory abnormalities in DS.