Selahattin KATAR, Sultan ECER, Mehmet KERVANCIOĞLU, Ahmet YARAMIŞ, M. Nuri ÖZBEK, Celal DEVECİOĞLU

Nörofibromatozisli dört olgunun değerlendirilmesi

Nörofibromatozis otozomal dominant geçiş gösteren genetik bir hastalık olup,Tip-1 ve Tip-2 diye iki formu vardır. En sık görülen nörofibromatozis tip-1’in görülme oranı 1/4000 dır. Önemli klinik özellikleri; cafe-au-lait denilen karekteristik pigmente deri lezyonu, Lisch nodülleri denilen pigmente iris hamartomaları ve deri nörofibromalarıdır. Tip-1 Nörofibromatozisli hastalarda hiçbir nörolojik şikayet ve bulgu olmaksızın görüntüleme yöntemleriyle beyin anomalileri tespit edilebilir. Olgularımızda nörolojik şikayet yada muayene bulgusu olmadığı halde, 1, 2 ve 4. olguların kranial manyetik rezonanslarında hamartomalar tespit edildi. Bu çalışmada, Tip-1 Nörofibromatozis düşünülen hastalarda herhangi bir nörolojik defisit olmadan da kranial tutulum olabileceği düşünülerek erken kranial manyetik rezonans çekilmesinin takip ve tedavi açısından önemli olduğu görüşündeyiz.

Anahtar Kelimeler:

Çocuk, Manyetik rezonans görüntüleme, Nörofibromatoz 1

The evaluation of four cases with neurofibromatosis

Neurofibromatosis is neurocutaneus, and the most common autosomal dominant disorder, occuring in approximately 1 per 4000 people. There are two distinct forms of Neurofibromatosis: type I and type II. Cafe'-au-lait hyperpigmented macules, iris Lisch nodules and neurofibromas are characteristic of Neurofibromatosis -1. Abnormality of brain in the patients can be established with manyetic resonans imaging, without neurological symptoms . Although there were not neurological symptoms and physical findings hamartomas were established with MRI in our case 1,2,4. We are of the opinion that in neurologically asymptomatic children with Neurofibromatosis -1 abnormality of brain can be determined by manyetic resonans imaging which is the important for diagnosis and treatment.

Keywords:

Child, Magnetic Resonance Imaging, Neurofibromatosis 1,

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