Fatal Status Epilepticus in Dravet Syndrome

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.

Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in Germany

“…This is in agreement with other studies, including the pivotal RCTs, 6–8 and recent data from the FFA EAP in the United States (Table ) 23 . Furthermore, we also observed reductions in episodes of SE, a very serious manifestation of DS, associated with hospitalizations, long‐term neurological and cognitive sequelae, and even death, as well as a high health care burden 2,24 . It is also notable that during treatment with FFA in our study, 45% of patients were able to discontinue concomitant ASMs, and the dose was tapered in a further 23% of patients.…”

“…23 Furthermore, we also observed reductions in episodes of SE, a very serious manifestation of DS, associated with hospitalizations, long-term neurological and cognitive sequelae, and even death, as well as a high health care burden. 2,24 It is also notable that during treatment with FFA in our study, 45% of patients were able to discontinue concomitant ASMs, and the dose was tapered in a further 23% of patients. Specchio et al 16 also reported reductions in the medication burden (discontinuations or dose reductions of concomitant ASMs) with FFA in 46% of patients, although the proportion of patients who discontinued an ASM was lower than in our study (14% vs. 45%).…”

“…1 The majority of patients experience episodes of status epilepticus (SE), a manifestation that requires emergency medical attention and that can result in worse outcomes, including death. 2,3 The treatments used for DS are intended to reduce the seizure burden. 1 The antiseizure medications (ASMs) valproate and clobazam (CLB) are the first-line treatments; however, the majority of patients continue to have seizures that are poorly controlled.…”

Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889

“…I read with interest the article “Fatal Status Epilepticus in Dravet Syndrome” by Paola De Liso et al recently published in this journal [ 1 ]. The authors report in detail the cases of seven patients with Dravet syndrome who died after a febrile epileptic status (ES).…”

Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889”

“…It has been an honor for us to receive a comment on our article “Fatal Status Epilepticus in Dravet Syndrome” [ 1 ] from Charlotte Dravet, the epileptologist who described this syndrome. We thank Prof. Dravet, and we agree with her comments.…”