Neurofibromatosis: Evaluation of Clinical Features of 39 Cases

Abstract

Objective: Our study aims to evaluate the clinical findings of childhood neurofibromatosis type 1 cases. Material and Methods: The clinical features of childhood patients who were followed up and treated by Pamukkale University Faculty of Medicine, Department of Pediatric Neurology between 2015 and 2023 were evaluated retrospectively. Results: 39 children were included in the study. Twenty-one of the cases were male and 18 were female. The mean age was 11.71±4.05 years. 11 (28.2%) patients had a family history of neurofibromatosis. Lisch nodule was seen in 14 patients, and axillary freckling was seen in 21 patients. Six of the cases had neurofibroma. Plexiform neurofibroma was not present in any of the cases. Four children had scoliosis. Nine of the cases had learning disabilities. Conclusion: The symptoms, signs, and complications of the cases in our study are consistent with the literature. It was thought that the low number of complications was due to the young age of the cases. In this study, we emphasized the importance of early recognition of NF-1 in terms of informing families about the disease and preventing treatable complications with regular clinical follow-up of these children.