EPILEPTIK ENSEFALOPATIYA SHAKLIDAGI DRAVE SINDROMINI ERTA TASHXISLASHDAGI QIYINCHILIKLAR. KLINIK HOLAT
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Аннотация:
Drave sindromi – bu hayotning birinchi yilida namoyon bo'ladigan, erta boshlangan, rivojlanish va epileptik ensefalopatiya. Taqdimot odatda istma bilan bog'liq bo'lgan uzoq davom etadigan miyoklonik va atonik-astatik xurujlar bilan namoyon bo'ladi. Bolalarda xurujlar boshlanishidan oldin psixomotor rivojlanishi yoshiga mos, ammo 18 oyligidan boshlab sekinlasha boshlaydi va vaqt o'tishi bilan nutq, harakatchanlik va ovqatlanishning buzilishi rivojlanadi. Bemorlarning uncha ko’p bo’lmagan qismida (10-15%) SCN1B natriy kanali genida mutatsiyaga ega, ammo SCN1B mutatsiyalari epilepsiyaning kamroq og'ir shakllari, masalan, febril tutqanoqli generallashgan epilepsiya (GEFS) bilan bog'liq bo'lishi ham mumkin. Ushbu ko'rib chiqishning maqsadi Drave sindromida tutqanoqni davolashda qaysi antiepileptic preparatlar (monoterapiya yoki qo'shimcha) samarali ekanligini aniqlashdir.
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