Öz
Dravet syndrome is an epileptic encephalopathy that accounts for approximately 1.4% of childhood epilepsies. The first seizure in Dravet syndrome typically occurs in most patients under one year of age, usually in a febrile episode (sometimes post-vaccination) and is also diagnosed as a complicated febrile convulsion. At the onset of the disease electroencephalography and cranial magnetic resonance imaging are expected to be normal. In the follow-up, febrile status epilepticus, afebrile seizures, regression in cognitive and motor development occurs. SCNA1A gene variants can be detected in 75-80% of patients clinically diagnosed with Dravet syndrome. SCN1A gene is a gene involved in the formation of Nav1.1 protein, which encodes sodium channels located in the cell membrane and plays a role in the regular functioning of the nervous system. A patient with recurrent febrile seizures, febrile status epilepticus, febrile seizure after the 3rd dose of mixed vaccine and diagnosed as Dravet syndrome at the age of 8 months was presented and the importance of early diagnosis of Dravet syndrome especially in post-vaccine seizures was emphasized.
Anahtar Kelimeler
Proje Numarası
yok
Kaynakça
- Dravet C. Les e´pilepsies graves de l’enfant. Vie Med. 1978;8:543–48.
- Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia . 1989;30(4):389-99.
- Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001;68(6):1327-32.
- Brunklaus A, Ellis R, Reavey E Forbes GH, Zuberi SM. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrom. Brain. 2012:135;2329–36.
- Wheless JW, Fulton SP, Mudigoudar BD. Dravet syndrome: A review of current management. Pediatr Neurol. 2020;107:28-40.
- Lagae L. Dravet syndrome. Curr Opin Neurol. 2021;34(2):213-8.
- Cross JH, Caraballo RH, Nabbout R, Vigevano F, Guerrini R, Lagae L. Dravet syndrome: Treatment options and management of prolonged seizures. Epilepsia. 2019;60:39-48.
- Gataullina S, Dulac O. From genotype to phenotype in Dravet disease. Seizure. 2017;44:58-64.
- Wirrell EC, Laux L, Donner E, Jette N, Knupp K, Meskis MA et al. Optimizing the diagnosis and management of Dravet syndrome: Recommendations from a North American Consensus Panel. Pediatr Neurol. 2017;68:18-34.e3.
- Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology. 2017;88(11):1037-44.
- Aras LM, Isla J, Mingorance-Le Meur A. The European patient with Dravet syndrome: Results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome. Epilepsy Behav. 2015;44:104-9.
- Monfries N, Goldman RD. Prophylactic antipyretics for prevention of febrile seizures following vaccination. Can Fam Physician.2017;63(2):128-30.
- Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM. Vaccination and childhood epilepsies. Eur J Paediatr Neurol. 2022;36:57-68.
- Damiano JA, Deng L, Li W, Burgess R, Schneider AL, Crawford NW et al. SCN1A variants in vaccine- related febrile seizures: A prospective study. Ann Neurol. 2020;87(2):281-8.
- Verbeek NE, van der Maas NA, Jansen FE, van Kempen MJ, Lindhout D, Brilstra EH. Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. PLoS One 2013:8(6): e65758.
- Tro-Baumann B, von Spiczak S, Lotte J, Bast T, Haberlandt E, Sassen R et al. A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome. Epilepsia. 2011;52(1):175-8.
- Scheffer IE, Nabbout R. SCN1A related phenotypes: Epilepsy and beyond. Epilepsia 2019;60(3):S17- S24.
Öz
Dravet sendromu çocukluk çağı epilepsilerinin yaklaşık %1.4‘ünü oluşturan bir epileptik ensefalopatidir. Dravet sendromunda tipik olarak ilk nöbet, hastaların büyük çoğunluğunda bir yaş altında, ateşli bir atakta-bazen aşılamadan sonra- görülür ve genellikle komplike febril konvülziyon olarak tanı alır. Hastalığın başlangıcında elektroensefalografi ve kraniyal manyetik rezonans görüntüleme normal olarak beklenir. Takipte febril status epileptikus, afebril nöbetler, bilişsel ve motor gelişimde gerileme meydana gelir. Klinik olarak Dravet sendromu tanısı alan hastaların %75-80’inde SCNA1A gen varyantları saptanabilir. SCN1A geni hücre zarında yer alan ve sinir sisteminin düzenli işleyişinde rol oynayan sodyum kanallarını kodlayan Nav1.1 proteininin oluşumunda görevli bir gendir. Tekrarlayan febril nöbetleri, febril status epileptikusu, 3.doz karma aşı sonrası febril nöbeti olan ve 8 aylık iken Dravet sendromu tanısı alan bir hasta sunularak özellikle aşı sonrası nöbetlerde Dravet sendromunun akla gelerek erken tanı konmasının önemi vurgulanmıştır.
Anahtar Kelimeler
Etik Beyan
etik kurul onayı gerekmemektedir
Destekleyen Kurum
yok
Proje Numarası
yok
Kaynakça
- Dravet C. Les e´pilepsies graves de l’enfant. Vie Med. 1978;8:543–48.
- Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia . 1989;30(4):389-99.
- Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001;68(6):1327-32.
- Brunklaus A, Ellis R, Reavey E Forbes GH, Zuberi SM. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrom. Brain. 2012:135;2329–36.
- Wheless JW, Fulton SP, Mudigoudar BD. Dravet syndrome: A review of current management. Pediatr Neurol. 2020;107:28-40.
- Lagae L. Dravet syndrome. Curr Opin Neurol. 2021;34(2):213-8.
- Cross JH, Caraballo RH, Nabbout R, Vigevano F, Guerrini R, Lagae L. Dravet syndrome: Treatment options and management of prolonged seizures. Epilepsia. 2019;60:39-48.
- Gataullina S, Dulac O. From genotype to phenotype in Dravet disease. Seizure. 2017;44:58-64.
- Wirrell EC, Laux L, Donner E, Jette N, Knupp K, Meskis MA et al. Optimizing the diagnosis and management of Dravet syndrome: Recommendations from a North American Consensus Panel. Pediatr Neurol. 2017;68:18-34.e3.
- Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology. 2017;88(11):1037-44.
- Aras LM, Isla J, Mingorance-Le Meur A. The European patient with Dravet syndrome: Results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome. Epilepsy Behav. 2015;44:104-9.
- Monfries N, Goldman RD. Prophylactic antipyretics for prevention of febrile seizures following vaccination. Can Fam Physician.2017;63(2):128-30.
- Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM. Vaccination and childhood epilepsies. Eur J Paediatr Neurol. 2022;36:57-68.
- Damiano JA, Deng L, Li W, Burgess R, Schneider AL, Crawford NW et al. SCN1A variants in vaccine- related febrile seizures: A prospective study. Ann Neurol. 2020;87(2):281-8.
- Verbeek NE, van der Maas NA, Jansen FE, van Kempen MJ, Lindhout D, Brilstra EH. Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. PLoS One 2013:8(6): e65758.
- Tro-Baumann B, von Spiczak S, Lotte J, Bast T, Haberlandt E, Sassen R et al. A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome. Epilepsia. 2011;52(1):175-8.
- Scheffer IE, Nabbout R. SCN1A related phenotypes: Epilepsy and beyond. Epilepsia 2019;60(3):S17- S24.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Hizmetleri ve Sistemleri (Diğer) |
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Proje Numarası | yok |
| Yayımlanma Tarihi | 26 Aralık 2023 |
| Gönderilme Tarihi | 21 Eylül 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 25 Sayı: 3 |
Kaynak Göster
Bu Dergi, Kırıkkale Üniversitesi Tıp Fakültesi Yayınıdır.