članak: 1 od 1  
Apollinem medicum et aesculapium
2002, vol. 1, br. 2-3, str. 10-25
jezik rada: srpski
stručni članak
Epilepsije i razvojne moždane malformacije
Univerzitet u Beogradu, Medicinski fakultet, Institut za neurologiju i psihijatriju za decu i omladinu

Sažetak

Malformacije cerebralnog razvoja (MCR) su poremećaji koji se karakterišu abnormalnom citoarhitekturom cerebralnog korteksa i visokom udruženošću sa epilepsijom. Za njihovu klasifikaciju nije ustanovljen ni jedan standardni sistem. Skori napredak u tehnici neuroimadžinga se bori sa identifikovanim mutacijama gena u brojnim razvojnim moždanim malformacijama te je napravio uzbudljiv pogled na mehanizme neuralnog razvoja i epileptogeneze u spektru ovih sindroma. Visok procenat napada je zajednički za sve MCR. Najmanje polovina dece sa intraktilnim napadima ima različite forme neokortikalnih malformacija. Poremećaji povezanosti neurona i promena izražavanja relevantnih gena su postavljene kao primarna sila u cerebralnoj dismorfogenezi, epileptogenezi i hiperekscitabilnosti. Najkorišćenija kontrola napada kod pacijenata sa MCR može da se vrlo teško primeni uprkos AED politerapiji i operaciona resekcija je često neophodna. Grupa od 61 deteta starog od 0,5 do 17 godina sa epilepsijom i MCR je proučavana za klinički tok i prognozu. Hemimegalencefalija, tuberozna skleroza (kako malformacije slede abnormalnoj neuronalnoj i glialnoj proliferaciji) lisencefalija tipa 1, pahigirija, subependima i subkortikalna heterotopiaza (malformacije koje slede poremećenoj neuronalnoj migraciji) polimikrogirija, šizencefalija, i fokalna (multifokalna) kortikalna displazija (malformacije kortikalne organizacije) i semilobarna holoprozencefalija su bile potisnute MRI tehnikom. Sredina zahvaćenosti napadom je bila u 3,7 godina. Mentalna retardacija je bila u 72,1% dece. Usporenje pokreta je zapaženo kod31, a fokusirani neurološki deficiti su zapaženi kod 23 pacijenta. Simptomatični generalizovani epileptički sindromi (uglavnom West-ov i Lenox-Gastaut sindrom) dijagnozirani su kod 25, a parcijalne epilepsije kod 27 dece. Grčeviti i negrčeviti epileptički status u 30 epizoda pojavio se u podgrupi od 16 (26,2%) pacijenata. Povoljna kontrola napada je postignuta sa jednim od novih AED-a kod 26 od 37 pacijenata sa epilepsijom intraktibilnom na konvencionalni antiepileptički tretman. Neurooperacioni tretman ima veće izglede od racionalnih terapeutskih pristupa za neku decu sa farmakorezistentnim napadima i otklonivim epileptogenim povredama. Razvoj moždanih (kortikalnih) malformacija i disgenezija u podgrupi dece su udružene sa uglavnom nepovoljnim kliničkim tokom i slabim rezultatom u odnosu na kontrolisane napade, kognitivne i neurološke funkcije.

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