Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer
Pediatrics | AMER ACAD PEDIATRICS | Published : 2017
Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and SCN1A mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus. Cases were identified from a review of children with DS enrolled in the Epilepsy Genetics Research Program at The University of Melbourne, Austin Health, who died after fever-associated status epileptic..View full abstract
This study was supported by funding from an Australian National Health and Medical Research Council (NHMRC) Program Grant; Dr Scheffer also has an NHMRC Practitioner Fellowship.