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Title: Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of Cases.
Austin Authors: Myers, Kenneth A;McMahon, Jacinta M;Mandelstam, Simone A;Mackay, Mark T;Kalnins, Renate M;Leventer, Richard J;Scheffer, Ingrid E 
Affiliation: Alberta Children's Hospital, Cumming School of Medicine, Department of Pediatrics, Section of Neurology, University of Calgary, Calgary, Alberta, Canada
Murdoch Childrens Research Institute, Melbourne, Victoria, Australia
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia
Department of Pathology, Austin Health, Heidelberg, Victoria, Australia
Departments of Paediatrics and Radiology, The University of Melbourne, Parkville, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Issue Date: Apr-2017 2017-03-22
Publication information: Pediatrics 2017-04; 139(4): e20161933
Abstract: Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 2years. 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 epilepticus. Five children were identified, all of whom presented with fever-associated convulsive status epilepticus, developed severe brain swelling, and died. All had de novo SCN1A mutations. Fever of 40°C or greater was measured in all cases. Signs of brainstem dysfunction, indicating cerebral herniation, were first noted 3 to 5 days after initial presentation in 4 patients, though were apparent as early as 24 hours in 1 case. When MRI was performed early in a patient's course, focal regions of cortical diffusion restriction were noted. Later MRI studies demonstrated diffuse cytotoxic edema, with severe cerebral herniation. Postmortem studies revealed diffuse brain edema and widespread neuronal damage. Laminar necrosis was seen in 1 case. Cerebral edema leading to fatal brain herniation is an important, previously unreported sequela of status epilepticus in children with DS. This potentially remediable complication may be a significant contributor to the early mortality of DS.
DOI: 10.1542/peds.2016-1933
Journal: Pediatrics
PubMed URL: 28330972
Type: Journal Article
Appears in Collections:Journal articles

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