Olcay GÜNGÖR, Gülay GÜNGÖR, Can ACIPAYAM

Nörofibromatozis tip 1 hastalarının radyolojik ve fenotopik değerlendirilmesi

Amaç: Çocukluk çağı nörofibromatozis tip 1 olgularımızın klinik ve radyolojik bulgularının değerlendirilmesiGereç ve Yöntem: 2013-2016 yılları arasında Sütçü İmam Üniversitesi Tıp Fakültesi Çocuk Nöroloji Bilim Dalı’nda nörofibromatozis tanısı ile takip ve tedavileri yapılan hastaların klinik ve radyolojij özellikleri retrospektif olarak değerlendirildi.Bulgular: Çalışma grubuna 21 çocuk dahil edildi. Bunlardan 11’i erkek ve 10’u kızdı. Yaş ortalaması 10.41±3.05 yıl saptandı. On dört (%28,6) olguda aile öyküsü mevcuttu. On bir (%52,3) hastada Lisch nodülü ve 7 (%33,3) hastada koltukaltı çillenmesi görüldü. Olguların 5 (%23,8)’inde nörofibrom vardı. Olguların hiçbirinde pleksiform nörofibrom saptanmadı. Dört (%19) hastada skolyoz görülmüştür. Olguların 6’sında (%28,5) öğrenme güçlüğü vardı. Sonuç: Nörofibromatozis tip 1’in erken tanısı; ailelerin hastalık hakkında bilgilendirilmesi ve bu çocukların düzenli klinik takibi ile tedavi edilebilir komplikasyonları önlemek açısından çok önemlidir.

Anahtar Kelimeler:

Çocuk, manyetik rezonans görüntüleme, nörofibromatozis tip 1

Phenotypic and radiological evaluation of neurofibromatosis type 1 patients

Aim: The aim of our study is to evaluate the clinical and radiological features of children with neurofibromatosis type 1.Material and Method: The patients who were followed up and treated with neurofibromatosis type 1 in Department of Pediatric Neurology at Sutcu Imam University between the years of 2013-2016 were retrospectively evaluated clinically and radiologically.Results: Twenty one children were included in this study. Of those, 11 were boys and 10 were girls. Fourteen cases (28.6 %) had a family history. The mean age of the children was 10.41±3.05 years. Lisch nodules were observed in 11 patients, and axillary freckling in 7 patients. There were neurofibromas in 5 cases (23.8%). Plexiform neurofibromas were not detected in any of the cases. Scoliosis was seen in 4 patients (19%). Six of the cases (28.5%) had learning difficulties.Conclusion: Early diagnosis of NF-1 is very important to inform families about the disease and prevent treatable complications with regular follow-up of these children.

Keywords:

Child, magnetic resonance imaging, neurofibromatosis type 1,

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