Fatal Status Epilepticus in Dravet Syndrome.

Paola De Liso,Marina Trivisano,Federico Vigevano,Rima Nabbout,Domenica Battaglia,Virginia Pironi,Nicola Specchio,Dana Craiu,Massimo Mastrangelo

doi:10.3390/brainsci10110889

Abstract

Dravet Syndrome (DS) is burdened by high epilepsy-related premature mortality due to status epilepticus (SE). We surveyed centres within Europe through the Dravet Italia Onlus and EpiCARE network (European Reference Network for Rare and Complex Epilepsies). We collated responses on seven DS SCN1A+ patients who died following refractory SE (mean age 6.9 year, range 1.3–23.4 year); six were on valproate, clobazam, and stiripentol. All patients had previous SE. Fatal SE was always triggered by fever: either respiratory infection or one case of hexavalent vaccination. SE lasted between 80 min and 9 h and all patients received IV benzodiazepines. Four patients died during or within hours of SE; in three patients, SE was followed by coma with death occurring after 13–60 days. Our survey supports the hypothesis that unresponsive fever is a core characteristic feature of acute encephalopathy. We highlight the need for management protocols for prolonged seizures and SE in DS.

Highlights

Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy (DEE) that is usually due to SCN1A genetic variants for the voltage-gated sodium channel Nav1.1
During the six months before the fatal status epilepticus (SE), Four Dravet Italia Onlus centres and six EpiCARE centres responded to our request
Rapid access to specific recommendations for management of fever and prolonged or repetitive seizures in this syndrome should be available to emergency room physicians unfamiliar with this syndrome and some psychiatric intensive care-unit physicians away from the reference centres. This retrospective analysis of patients who died during a SE supports—albeit weakly—the hypothesis that unresponsive fever is a core characteristic feature of acute encephalopathy (AE)

Summary

Introduction

Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy (DEE) that is usually due to SCN1A genetic variants for the voltage-gated sodium channel Nav1.1. DS is characterized by onset of hemiclonic or generalised fever-triggered seizures within the first year of birth followed by afebrile multiple seizure types. The majority of patients have repeated episodes of status epilepticus (SE), often triggered by fever [1]. Mortality is high with DS (range 5.75–10%) [1,2,3], with sudden unexpected death in epilepsy (SUDEP) seemingly more frequent than intractable SE (49% versus 32%) [3]. Death due to intractable SE is frequent among patients younger than 10 years old (86%), with a peak around 6 years old [2]. SE-related mortality risk might be due to an acute encephalopathy (AE), a potentially fatal

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