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2007, vol. 24, br. 4, str. 223-227
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Neurofibromatoza tip 1 kod blizanaca - prikaz slučaja
Neurofibromatosis 1 in twins: A case report
Keywords: neurofibromatosis (NF- 1); twins
Sažetak
M. Von Recklinghausen neurofibromatoza tip 1 (NF-1) je najčešća forma neurofibromatoze prisutna u 90% slučajeva. Nasledjuje se autosomno-dominantno sa prevalencom izmedju 1 na 3000 i 1 na 5000 slučajeva, čineći jedno od najčešćih autosomno-dominantno nasleđenih stanja kod ljudi. U radu su prikazani blizanci sa neurofibromatozom tip 1 i anisomiopijom sa ambliopijom kod jednog deteta. Sagledavanjem slabovidosti zbog anisomiopije kod ispitivanih blizanaca otkrivena je i neurofibromatoza tip 1. Oftamološka ispitivanja su esencijalni deo procesa skrininga.
Abstract
Von Recklinghausen's neurofibromatosis (NF-1) is the most common form of neurofibromatosis, accounting for 90% of cases. It is inherited in an autosomal dominant fashion and has the prevalence between 1 per 3000 and 1 per 5000, making it one of the most common autosomal dominant conditions in humans. The paper reports a case of twins with neurofibromatosis-1 and anisomyopia with amblyopia in one of the children. Considering the poor sight due to anisomyopia in the examined twins, neurofibromatosis-1 was also discovered. Ophthalmic examination is an essential part of the screening process.
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