Dravet sy – phenotypic variability associated with SCN1A mutations in five patients (CROSBI ID 628922)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Đuranović, Vlasta ; Mejaški Bošnjak, Vlatka ; Lujić, Lucija ; Zobenica, Mira ; Marković, Silvana ; Petrović, Dolores ; Vujasić, Zvonimir ; Šimić Klarić, Andrea ; Krakar, Goran ; Gojmerac, Tomislav ; Lončar, Lana ; Pleša Premilovac, Zdenka ; Đaković, Ivana
engleski
Dravet sy – phenotypic variability associated with SCN1A mutations in five patients
INTRODUCTION: Dravet syndrome, previously known as Severe Myclonic Epilepsy of Infancy (SMEI), is a a severe epileptic encephalopathycaracterised by prolonged clonic or tonic-clonic seizures in the first year of life, whichmost often occur in fever or illness. They are often initiallychategorised as febrile seizures. Early development is normal until the second year oflife, when signs of regression appear, accompanied by convulsive status epilepticus, alternant hemiconvulsions, myoclonic seizures, ataxia, behavioral disturbances and progresive decline. TheEEG 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. PATIENTS AND METHODS: We present five patients which had recurrent, prolonged seizures in fever and epileptic statusesduring 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. In allpatients 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: Antiepileptics which can aggravate seizures (lamotrigine, oxcarbazepine, vigabatrin, phenytoin) must not be administered to patients suffering Dravet syndrome. Beside adequate choice of drugs that prevent statuses, they should be vigorously treated (diazepam, buccolam). Therefore, the early recognition of this epileptic encephalopathy is important in order to reduce the number of seizures, to prevent epileptic statuses and slow down cognitive decline of those patients.
Dravet syndrome; phenotypic variability; SCN1A mutation
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
17-18.
2014.
objavljeno
Podaci o matičnoj publikaciji
Dravet sindrom, 43. tematski simpozij Hrvatskog društva za dječju neurologiju, Hrvatskog liječničkog zbora, s međunarodnim sudjelovanjem, 29. studenog 2014., zbornik sažetaka
Barišić, Nina
Zagreb: Medicinska naklada
Podaci o skupu
Dravet sindrom, 43. tematski simpozij Hrvatskog društva za dječju neurologiju, Hrvatskog liječničkog zbora, s međunarodnim sudjelovanjem, 29. studenog 2014.
predavanje
29.11.2014-29.11.2014
Zagreb, Hrvatska