Ring hromozom 20: doprinos boljem sagledavanju karakteristika epileptičnog fenotipa
Sažetak
Uvod. Sindrom prstenastog hromozoma 20 (r20) je veoma retka genetička abnormalnost, gde se dva kraka 20. hromozoma spajaju i formiraju prstenasti hromozom, što dovodi do farmakorezistentne epilepsije i širokog spektra poremećaja u ponašanju i kognitivnog deficita. Prikaz bolesnika. Prikazana su četiri bolesnika sa r(20) sindromom dijagnostikovanim između 2000. i 2018. godine. Kod svih bolesnika su analizirane kliničke karakteristike epileptičkih napada (semiologija napada, njihova učestalost/odgovor na terapiju, prisustvo nekonvulzivnog epileptičnog statusa), kognitivni status i fenotipske karakteristike. Napadi su se u proseku javljali u uzrastu od 6 godina. Sva četiri bolesnika su imala suptilne noćne napade i normalne nalaze magnetne rezonance (MR) mozga. Dismorfizmi su bili prisutni kod dva deteta, problemi u ponašanju kod dva deteta, a kognitivni deficit kod tri deteta. Hromozomski mozaicizam r(20) kretao se između 17% i 83% limfocita krvi. Zaključak. Uprkos malom broju ispitanika, smatramo da dobijeni rezultati imaju klinički značaj. Farmakorezistentna epilepsija sa početkom u dečjem uzrastu i posebno pojava noćnih napada je karakteristična za sindrom prstenastog hromozoma 20, a može se jednostavno dijagnostikovati analizom kariotipa.
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