Fatal Status Epilepticus in Dravet Syndrome

被引：12

作者：

De Liso, Paola ^{[1
,2
]}

Pironi, Virginia ^{[1
,2
,3
]}

Mastrangelo, Massimo ^{[4
]}

Battaglia, Domenica ^{[5
]}

Craiu, Dana ^{[6
,7
]}

Trivisano, Marina ^{[1
,2
]}

Specchio, Nicola ^{[1
,2
]}

Nabbout, Rima ^{[8
,9
]}

Vigevano, Federico ^{[1
,2
]}

机构：

[1] IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, I-00165 Rome, Italy

[2] European Reference Network EpiCARE, I-00165 Rome, Italy

[3] Univ Cattolica Sacro Cuore, Ctr Rare Dis & Birth Defects, Dept Woman & Child Hlth, Inst Pediat,Policlin Univ Gemelli Fdn, I-00168 Rome, Italy

[4] V Buzzi Hosp, Paediat Neurol Unit, AO ICP, I-20019 Milan, Italy

[5] Univ Cattolica Sacro Cuore, Dept Child Neurol & Psychiat, Policlin Univ Gemelli Fdn, I-00153 Rome, Italy

[6] Carol Davila Univ Med Bucharest, Dept Neurol, Paediat Neurol, Psychiat,Neurosurg, Bucharest 050474, Romania

[7] European Reference Network EpiCARE, Bucharest 050474, Romania

[8] Paris Descartes Univ, Necker Enfants Malades Hosp, Ctr Rare Epilepsies,Dept Paediat Neurol, Imagine Inst,INSERM,U1163, F-75006 Paris, France

[9] European Reference Network EpiCARE, F-75006 Paris, France

来源：

BRAIN SCIENCES | 2020年 / 10卷 / 11期

关键词：

Dravet syndrome; status epilepticus; acute encephalopathy; SCN1A; cause of death; ACUTE ENCEPHALOPATHY; CEREBRAL EDEMA; MORTALITY; MANAGEMENT; SCN1A; VACCINATION;

D O I：

10.3390/brainsci10110889

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：1 / 9

页数：9

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