Naslov
Dravet‐Syndrome with Different Fenotype, Genotype and Outcome

Autori
Đuranović, Vlasta ; Mejaški Bošnjak, Vlatka ; Lujić, Lucija ; Đaković, Ivana ; Zobenica, Mira ; Marković, Silvana ; Petrović, D ; Šimić Klarić, Andrea ; Sekelj Fureš, Jadranka ; Vulin, Katarina

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Epilepsia, 2018 59(suppl 3) / - , 2018, 299-299

Skup
13th European Congress on Epileptology

Mjesto i datum
Beč, Austrija, 26.08.2018. - 30.08.2018

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Dravet syndrome

Sažetak
Purpose: Dravet sy. is a severe epileptic encephalopathy caracterised by prolonged clonic or tonic ‐ clonic seizures in the first year of life, which most often occur in fever or ill- ness. They are often initially chategorised as febrile seizures. Early development is normal until the second year of life, when signs of regression appear, accompanied by convulsive status epilepticus, alternant hemiconvulsions, myoclonic seizures, ataxia, behavioral disturbances and progresive decline. The EEG is normal at onset as well as a neuroimaging studies. Later, EEG progresses to single or generalized spikes, polyspikes and slow‐wave discharges. The clinical diagnosis is confirmed by genetic testing of SCN1A gene mutation. Method: We present five patients which had recurrent, prolonged seizures in fever and epileptic statuses during infancy. In all patients the disease started in the age of five to seven months of life. First EEG recordings were normal ; repeated recordings showed epileptiform changes. Brain imaging was normal. Due to the presented course of disease, Dravet syndrome was suspected, which was confirmed by genetic analysis in the second year of life. Results: In all patients mutation of the SCN1A gene was confirmed. Psychomotor development of our patients was various. Two children, now aged 6 and 7 years, had a very severe course of disease with frequent epileptic statuses in fever and regression in psychomotor development. The remaining three patients (one at the age of 3 years, and two in the ages 17 and 18 months) have a significantly less seizures and for now, normal psychomotor development. Conclusion: The early recognition of this epileptic encephalopathy is important in order to prevent epileptic statuses and slow down cognitive decline of those patients.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA