Acute Encephalopathy in a Patient with Dravet Syndrome

Tsuji, Megumi; Mazaki, Emi; Ogiwara, Ikuo; Wada, Toyoji; Iai, Mizue; Okumura, Akihisa; Yamashita, Sumimasa; Yamakawa, Kazuhiro; Osaka, Hitoshi

doi:10.1055/s-0031-1279725

Cited by 8 publications

(5 citation statements)

References 10 publications

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“…McIntosh et al reported that 45% of DS patients who presented a first seizure in proximity of vaccination might experience a SE [21]. Tsuij et al described a patient with DS with a SE associated with AE after influenza vaccination; fortunately, without a fatal outcome [22]. Recently, Deng et al reported a fatal SE following vaccination in a 12 month-old boy with SCN1A genetic variant [23]; clinical phenotype of this patient was suggestive of 'generalized epilepsy with febrile seizures plus' (GEFS+) rather than DS.…”

Section: Discussionmentioning

confidence: 99%

Fatal Status Epilepticus in Dravet Syndrome

et al. 2020

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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.

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Section: Discussionmentioning

confidence: 99%

Fatal Status Epilepticus in Dravet Syndrome

et al. 2020

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“…Our findings show that although the condition worsens progressively compared to healthy children there is no loss of abilities since all patients acquired new skills during follow-up. Obviously, this does not apply to the rare patients who had developed major anoxic-ischemic sequelae after severe and complicated status epilepticus with atrophy of supratentorial structures [23] or lesions in the subcortical structures [24] and who were therefore not included in the present study.…”

Section: Discussionmentioning

confidence: 99%

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

Nabbout

Chémaly

Chipaux

et al. 2013

Orphanet J Rare Dis

168

181

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BackgroundDravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. Our objective was to prospectively analyze the neuropsychological features in a large cohort of DS patients and its relationships with epilepsy and SCN1A mutation.Methods81 examinations were performed in 67 patients with typical DS (9m-24y, 15 longitudinally studied) using Brunet-Lezine (developmental/intelligence quotient [DQ/IQ] and DQ sub-scores), Achenbach, Conners, and a semi-quantitative psychomotor score (SQPS). We studied the correlation between DQ/IQ/SQPS and age, epilepsy characteristics, and whether patients presented SCN1A mutation.ResultsDQ/IQ significantly decreased with age (r = −.53, p < .001), from normal before 2y (mean 80, range 64–105) to low after 3y (mean 48, range 30–69), with hyperactivity and attention disorders hampering learning abilities especially up to 6y. However, raw (not age-adjusted) DQ sub-scores increased with age during the first decade, showing that there is no regression. We did not find any significant correlation between DQ/IQ at last evaluation and epilepsy data, i.e. first seizure (age, type, duration, fever), seizures during the course (type, fever sensitivity), status epilepticus (age of onset, number, fever), photosensitivity, and treatment, except for myoclonus and focal seizures which were associated with a lower QD/IQ after 3y. SCN1A mutated patients (n = 58) seemed to exhibit worse psychomotor course than non-mutated ones (n = 9) (severe SQPS in 26% vs 0%), although their epilepsy tended to be less severe (tonic seizures in 12% vs 44% [p = 0.04], first status epilepticus before 6 m in 26% vs 67% [p = .02], mean number of SE 2.5 vs 4.5 [p = .09]). DQ sub-scores were dissociated throughout the whole course: from onset hand-eye coordination was significantly lower than language, posture and sociability (p < .01). Dissociation seemed to be more frequent in mutated than in non-mutated patients (motor SQPS was normal for in 77% vs 44% [p = 0.017] whereas language SQPS was normal for 47% vs 100%).ConclusionsAlthough psychomotor/cognitive delay declines with age, there is no regression. In addition, encephalopathy is not a pure consequence of epilepsy but SCN1A mutation seems to play an additional, direct role.

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“…These 15 patients were a subject of this study. The clinical course of patient 11 was presented elsewhere as a case report (Tsuji et al., 2011). The approximate number of the patients with Dravet syndrome who were regularly followed was available from 12 hospitals.…”

Section: Methodsmentioning

confidence: 99%

Acute encephalopathy in children with Dravet syndrome

et al. 2011

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Summary Purpose: The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features of acute encephalopathy in children with Dravet syndrome. Methods: Through the mailing list of the Annual Zao Conference on Pediatric Neurology, we collected 15 patients with clinically diagnosed Dravet syndrome, who had acute encephalopathy, defined as a condition with decreased consciousness with or without other neurologic symptoms, such as seizures, lasting for >24 h in association with infectious symptoms. Key Findings: There were seven boys and eight girls. A mutation of the SCN1A gene was present in nine (truncation in six and missense in three). The frequency of seizures during the 3 months before the onset of acute encephalopathy was monthly in seven children and none in three. The median age at the onset of acute encephalopathy was 44 months (range 8–184 months). All children had status epilepticus followed by coma as the initial manifestation. Two different distributions of brain lesions were observed on diffusion‐weighted images during the acute phase: cerebral cortex–dominant lesions with or without deep gray matter involvement and subcortical‐dominant lesions. Four children died; nine survived with severe sequelae, and two had moderate sequelae. Significance: We must be aware that acute encephalopathy is an important complication in children with Dravet syndrome, and associated with fulminant clinical manifestations and a poor outcome.

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Acute Encephalopathy in a Patient with Dravet Syndrome

Cited by 8 publications

References 10 publications

Fatal Status Epilepticus in Dravet Syndrome

Fatal Status Epilepticus in Dravet Syndrome

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

Acute encephalopathy in children with Dravet syndrome

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