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2021, vol. 149, br. 7-8, str. 485-488
Sindrom infantilne hemikonvulzije-hemiplegije i epilepsije udružen sa mutacijom gena GRIN2A
aUniverzitet u Beogradu, Medicinski fakultet, Institut za zdravstvenu zaštitu majke i deteta Republike Srbije 'Dr Vukan Čupić' + Univerzitet u Beogradu, Medicinski fakultet
bUniverzitet u Beogradu, Medicinski fakultet, Institut za zdravstvenu zaštitu majke i deteta Republike Srbije 'Dr Vukan Čupić'

e-adresaruzica.kravljanac@gmail.com
Ključne reči: infantilne hemikonvulzije; hemiplegija; epilepsija; GRIN2A; status epilepticus
Sažetak
Uvod Sindrom infantilne hemikonvulzije-hemiplegije i epilepsije (IHHE) specifičan je entitet kod bolesnika mlađih od dve godine. Predstavlja novonastali refraktarni status epilepticus koga karakterišu: unilateralni motorički napadi i akutne neuroradiološke promene na mozgu, febrilnost, hemipareza u trajanju većem od 24 sata, u odsustvu infektivnog encefalitisa. Prikaz bolesnika Prikazujemo rezultate praćenja jedanaestogodišnje devojčice sa IHHE udruženim sa mutacijom gena GRIN2A. Devojčica je imala normalan razvoj do prvog febrilnog hemikonvulzivnog epileptičkog statusa u sedmom mesecu života. Neuroradiološki nalaz je inicijalno pokazao edem desne hemisfere mozga, a kasnije progresivnu desnostranu hemiatrofiju mozga. Bolesnica je imala rezistentnu epilepsiju, levostranu hemiparezu i zadovoljavajući kognitivni razvoj i govor. Zaključak Iako je IHHE davno opisan, brojne karakteristike sindroma, uključujući etiologiju, još su uvek neobjašnjene. Udruženost IHHE i mutacije gena GRIN2A sada je prvi put opisana u stručnoj literaturi.
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Novododat članak: provera, normiranje i linkovanje referenci u toku.
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O članku

jezik rada: engleski
vrsta rada: prikaz slučaja
DOI: 10.2298/SARH201125049K
primljen: 25.11.2020.
revidiran: 10.05.2021.
prihvaćen: 20.05.2021.
objavljen onlajn: 01.06.2021.
objavljen u SCIndeksu: 03.09.2021.

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