Dravet Syndrome: A Case Series

Kapoor, Dipti; Anand, Aakanksha; Sharma, Suvasini; Mukherjee, Sharmila Banerjee; Marini, Carla; Mei, Davide; Chopra, Shimpi; Chettali, Akbar Mohaned

doi:10.1007/s12098-020-03383-z

Cited by 6 publications

(3 citation statements)

References 4 publications

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“…Journal of Advanced Scientific Research, 2023; 14 (06): July-2023 failure), but a girl of an early age successfully underwent orthotopic liver transplantation. Consistent with her Bjarnason, who analysed 33 case reports, a wide range of variation was observed in ALT and aspartate transaminase levels, with 100% having at least a twicefold increase [30].…”

Section: Nimesulidesupporting

confidence: 73%

The Concepts and Prospects of Nimesulide Induced Hepatotoxicity

Renuka,

Kaustubh,

Anshu

et al. 2023

JASR

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Nonsteroidal anti-inflammatory drugs (NSAIDs) are the most widely prescribed class of drug. The current study wascarried out to reveal the facts and prospects of Nimesulide, an over-the-counter NSAID drug. Around 57 cases ofhepatotoxicity collected from the DILI registry in Spain and Latin America were reviewed. Various causality cases wereassessed using the RUCAM scale, which revealed the mean age of 59 years of patients among the entire case series ofhepatotoxicity, out of which 86% were women, and the mean onset time of action was 40 days, while 46 patients, i.e.,81%, were also suffering from jaundice. Nimesulide-induced liver injury was found to be hepatocellular in 38 cases(67%), mixed type in 12 cases (21%), and cholestasis in 7 cases (12%). The reported incidence of NSAID-induced liverdisease in clinical trials was found to be fairly constant, ranging from 0.29 per 100,000 [95% confidence interval (CI):0.17-051] to 9 per 100,000 (95% CI: 6-15). Therefore, a higher risk of liver-related hospitalisation (32.3 per 100,000patients) was reported. The studies indicated that Nimesulide and other NSAIDs cause extensive liver damage, rangingfrom asymptomatic transient hyperaminotransducers to fulminant liver failure. However, various shortcomings inepidemiologic studies jeopardise the opportunity to determine the actual risk of hepatotoxicity. The drugs, such asBenoxaprofen and Bromfenac, have been withdrawn from the market due to their hepatotoxic behaviour. The presentreview was carried out to critically analyse the results currently available in the literature on NSAID-inducedhepatotoxicity and to create an overview of the most commonly used compounds of the NSAID groups.

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Section: Nimesulidesupporting

confidence: 73%

The Concepts and Prospects of Nimesulide Induced Hepatotoxicity

Renuka,

Kaustubh,

Anshu

et al. 2023

JASR

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“…24 A similar result was seen by Fujiwara et al, 25 Kapoor et al found suboptimal seizure control in all nine children in the cohort, (frequency of one to two per month in eight and daily in one, despite multiple ASMs). 26 This confirms the drug refractory nature of DS. One patient in our cohort who used stiripentol had significant reduction of GTCS with persisting EM, similar to a study by Wirrell et al in which stiripentol led to greater than 50% reduction in seizure frequency in 71% of cases and also markedly reduced SE when used with Clobazam and Valproate.…”

Section: Discussionmentioning

confidence: 54%

A Retrospective Study of the Profile and Outcome of Children with Dravet Syndrome in a Tertiary Care Hospital of Southern India

Banerjee

Prabhu

Lagudu

et al. 2022

Journal of Pediatric Epilepsy

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Objective Dravet syndrome (DS) is an epileptic syndrome that shares similarities with febrile seizures (FS), especially before 1 year of age, making it challenging to differentiate the two. We describe the profile of DS, with emphasis on the first year of life that can aid in early diagnosis. Methods The clinical, investigative, treatment, and outcome profiles of DS patients presenting to the outpatient department (OPD) between October 2016 and December 2021 in a single tertiary care center in South India were analyzed. Results Seventeen children were studied, with median age at presentation of 30 (interquartile range [IQR] 10, 47) months. The median age at seizure onset was 5 (IQR 3, 6) months. First seizure semiology were generalized tonic-clonic (GTCS) (35.3%), focal (52.9%), and myoclonic (11.8%). Fever preceding first seizure was seen in 76.5%. Status epilepticus (SE; ≥30 minutes) and prolonged seizures (>10 minutes) were seen in 41.2% each, and >5 seizures were seen in 82.4% in the first year of life. The most frequent subsequent seizure types were focal seizures (76.5%) and GTCS (76.5%). Other seizure triggers included vaccination (52.9%), light (17.6%), and Hot-bath (5.8%). Delayed developmental milestones for age were found in 52.9% at diagnosis. Magnetic resonance imaging (MRI) brain and electroencephalogram were normal in 76.4% each. Pathogenic/likely pathogenic variants in SCN1A gene were seen in 64.7%. Average of 3.9 anti-seizure medications were used. After optimization of treatment seizure frequency reduced in 40% and 4/15 (26.6%) had SE. Conclusion In addition to characteristic clinical profile of DS we observed atypical presentations: an earlier age of seizure onset and afebrile seizure at onset. Delayed diagnosis was noted. Seizure control improved and SE reduced on optimal treatment.

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“…The most common causes of death in DS patients are sudden unexpected death in epilepsy (SUDEP) and status epilepticus. 1,2,6 DS is caused by de novo loss-of-function mutations (haploinsufficiency)in the SCN1A gene, located on chromosome 2q24 which codes for the voltage-gated sodium channel isoform NaV1.1 and was discovered in the year 2001. The voltage-gated sodium channel is made up of a primary α subunit (NaV1.1-NaV1.9, encoded by the genes SCN1A-SCN11A) and a secondaryβ subunit (a single transmembrane domain, 1-4, encoded by the genes SCN1B-SCN4B).…”

Section: Introductionmentioning

confidence: 99%

Dravet syndrome in a 3-year-old pediatric patient: case report

Shailaja¹,

Nissi²,

A.³

2022

Int J Community Med Public Health

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Dravet syndrome (DS) is a severe form of epilepsy that occurs during the first year of life. This is caused by mutations in the voltage-gated sodium channel and characterized by frequent, prolonged seizures often triggered by high body temperature (hyperthermia), developmental delay, ataxia, hypotonia, sleep disturbances which is treated by multiple antiepileptic drugs. In this case report, we will discuss a 3 years old male pediatric patient who presented with complaints of vomiting and lethargies followed by seizures and has been diagnosed with DS since the age of 6 months. He was given with multiple antiepileptic drugs and other drugs for his symptomatic management which resulted in a major drug interaction. From this case report, we will get a clear picture necessitating continuous monitoring in case of polypharmacy.

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Dravet Syndrome: A Case Series

Cited by 6 publications

References 4 publications

The Concepts and Prospects of Nimesulide Induced Hepatotoxicity

The Concepts and Prospects of Nimesulide Induced Hepatotoxicity

A Retrospective Study of the Profile and Outcome of Children with Dravet Syndrome in a Tertiary Care Hospital of Southern India

Dravet syndrome in a 3-year-old pediatric patient: case report

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