Severe acute respiratory distress syndrome in Dravet syndrome: Clinical cases expanding the extraneurological phenotype.

OBJECTIVE

Dravet syndrome (DS) is increasingly recognized as a multisystem disorder extending beyond epilepsy. We describe two children with genetically confirmed DS who developed recurrent, severe episodes of acute respiratory distress syndrome (ARDS), suggesting a previously underrecognized extraneurological manifestation.

METHODS

Clinical, genetic, and pediatric intensive care data were retrospectively reviewed.

RESULTS

Both patients experienced severe ARDS triggered by febrile illnesses or status epilepticus. One child developed recurrent ARDS associated with viral respiratory infections, requiring multiple pediatric intensive care unit admissions with invasive or noninvasive ventilatory support. The second patient developed life-threatening ARDS following status epilepticus, requiring prolonged mechanical ventilation and repeated veno-venous extracorporeal membrane oxygenation for refractory hypoxemia. In both cases, ARDS occurred in the absence of ongoing seizures during critical illness.

SIGNIFICANCE: These cases expand the recognized extraneurological phenotype associated with SCN1A-related Dravet syndrome and suggest a potential vulnerability to severe inflammatory respiratory failure. Increased awareness of this association may have important implications for risk stratification, monitoring, and multidisciplinary management of children with DS during febrile illnesses and status epilepticus.