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Acta medica Medianae
2014, vol. 53, br. 2, str. 54-56
jezik rada: engleski
vrsta rada: prikaz slučaja
doi:10.5633/amm.2014.0209


Syndroma Noonan - prikaz bolesnika
aClinic for Eye Diseases, Clinical Center, Niš
bClinic for Eye Diseases, Clinical Center Niš + Faculty of Medicine, Niš

e-adresa: milenavujanovic@gmail.com

Sažetak

Nunanov sindrom je retka autozomalno dominantno nasledna bolest, koja se karakteriše niskim rastom, abnormalnostima lica, urođenim promenama na srcu i urogenitalnom traktu. Promene na oku javljaju se kod 95% ovih bolesnika i najčešće su to hipertelorizam, ptoza, refrakcione anomalije, strabizam, ambliopija, ređe nistagmus, kolobomi, katarakta, druze papile vidnog živca. Prikazujemo slučaj dečaka starog 10 meseci, upućenog od strane pedijatra zbog skretanja levog oka. Opštim pregledom glave i lica primećeno je da su uši niže postavljene, a donja vilica nešto manja. Oftalmološkim pregledom nađen je hipertelorizam, esotropija levog oka, hipermetropija, anomalija optičkog diska po tipu jamice. Pregledom dokumentacije deteta saznajemo da se radi o prevremeno rođenom detetu, koje je imalo respiratorni distres sindrom, intrakranijalne hemoragije, dilataciju oba pijelona, migratorni testis, stenozu a.pulmonalis. Konsultativnim pregledom genetičara potvrđena je dijagnoza sindroma Noonan. Raznolikost kliničkih manifestacija ovog sindroma ukazuje na neophodnost multidisciplinarnog pristupa kako u otkrivanju tako i u kasnijem lečenju i praćenju ovih bolesnika.

Ključne reči

Reference

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