Neurofibromatosis Type 1 in Children: A Single-Center Experience

Özet

Objective: Neurofibromatosis (NF) is the most common autosomal dominantly inherited neurocutaneoussyndrome. The characteristic features of NF type 1 (NF-1) are café au lait spots,axillary and inguinal freckling, peripheral neurofibromas, optic pathway glioma, and Lischnodules. The present study aimed to analyze the clinical features of children with NF-1.Materials and Methods: In this study, the children with NF-1 diagnosed and followed-up inour center between 2000 and 2020 were retrospectively evaluated. Demographic and clinicalfeatures of patients were defined.Results: The study group consisted of 52 patients. Of those, 25 were boys and 27 were girls. Thechildren’s median age at diagnosis was 5.9 years (1-15.8). Café au lait (CAL) spots and axillary/inguinal freckling were observed in 50 and 24 patients, respectively. Neurofibroma waspresent in 22 cases. Ten of the cohort had optic gliomas, and 39 of them had cranial hamartomas.Orthopedic complications such as scoliosis, tibial pseudoarthrosis, and osteoporosis wereobserved in 13 patients. Eleven children had neurocognitive disorders.Conclusions: Early diagnosis is important in neurofibromatosis to prevent the complications ofthe disease. Also, neurological development and secondary malignancy follow-up should bedone carefully in this group of patients.