Mojamoja sindrom u Šimkeovoj imuno-osealnoj displaziji

  • Ana Vujić University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
  • Slobodan Obradović University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
  • Zoran Igrutinović University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
  • Zoran Protrka University of Kragujevac, Faculty of Medical Sciences, Kragujevac, Serbia
  • Marijana Janković University of Kragujevac, Faculty of Medical Sciences, Kragujevac, Serbia
  • Marija Radovanović University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
  • Nataša Stajić Institute for Mother and Child Health Care of Serbia “Dr. Vukan Čupić”, Belgrade, Serbia
  • Raša Medović University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
  • Sveta Janković University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
DOI: https://doi.org/10.2298/VSP210829022V
Ključne reči: cerebrovaskularni poremećaji, dijagnoza, Moyamoya bolest, mutacija, magnetska rezonanca, snimanje

Sažetak


Uvod. Šimkeova imuno-osealna displazija (SIOD) je autozomno recesivno multisistemsko oboljenje, povezano sa bialelskim mutacijama gena SMARCAL1. Vaskularne komplikacije u centralnom nervnom sistemu u formi Mojamoja sindroma (MMS) javljaju se kao komorbiditet kod gotovo polovine bolesnika, manifestujući se klinički jakim glavoboljama nalik na migrenozne, tranzitornim ishemijskim atacima (TIA) i ishemijskim ili hemoragijskim infarktima. Prikazujemo ilustrativan slučaj infantilnog oblika SIOD sa MMS, sa pregledom najnovijih dijagnostičkih mogućnosti i trenutno najvažnijih dijagnostičko-terapijskih dilema vezanih za SIOD. Prikaz bolesnika. Prikazujemo bolesnicu sa infantilnim oblikom SIOD-e, koja je rođena sa težinom manjom od referentne za gestacijsku starost, u 34. gestacijskoj nedelji, sa manifestovanim karakterističnim dismorfizmima. Genetsko testiranje je otkrilo istovetnu nonsense mutaciju c.2542G>T na oba alela gena SMARCAL1. Bolesnica je imala više epizoda TIA, konvulzija i ishemijskih moždanih udara. Ispitivanja magetskom rezonancom (MRI) pokazala su progresivnu atrofiju mozga sa bilateralnom okluzijom/stenozom srednje i prednje cerebralne arterije i razvoj kolateralnih krvih sudova pod slikom „duvanskog dima“ karakteristično za MMS. U uzrastu od 5 godina i 9 meseci, bolesnica je dobila visoku temperaturu i kašalj, nepoznatog uzroka, praćene niskim brojem eritrocita i leukocita tokom 4 nedelje i slabim odgovorom na terapiju antibioticima, transfuziju eritrocita i faktor stimulacije rasta granulocita. Nakon ove epizode bolesnica je preminula. Zaključak. Oboleli od SIOD-e mogu razviti progresivne promene krvnih sudova mozga i kliničke manifestacije neurološkog propadanja u ranoj fazi bolesti. Kod takvih pacijenata od najvećeg zanačaja je rano postavljanje dijagnoze i preventivna hirurška revaskularizacija. U dijagnozi MMS, magnetna angiografija može biti adekvatna zamena standardnoj invanzivnoj angiografiji mozga.

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Objavljeno
2023/04/30
Broj časopisa
Vol. 80 Br. 03 (2023): Vojnosanitetski pregled
Rubrika
Prikaz bolesnika