Abstract:

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.      

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