RESUMO
INTRODUCTION: Neurofibromatosis type 1 (NF1) is an disorder characterised by various phenotypic features like hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities and tendency to develop neoplasms. CASE PRESENTATION: We present the case of a 12-year-old patient referred by his pediatrician for intermittent dysphagia and a sensation of food attachment, in whom several café-au-lait spots on the body had been found, and a case of type 1 neurofibromatosis in the patient's siblings. The decision was to closely follow-up the patient, the progression of his symptoms and the size of the cervical neurofibroma. The patient's current follow-up has been two years, with a minimal increase in the frequency of episodes of dysphagia, and with Ct-scan performed every year. No major growth of the cervical mass was noted. DISCUSSION: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by various phenotypic features like hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities and tendency to develop neoplasms. CONCLUSION: The treatment is not codified and abstention therapeutic may be a wise decision.
