Neurofibromatosis type I and its diagnostic criteria: a clinical observation

Abstract

The aim - to consider the etiopathogenesis, the main clinical manifestations, diagnostic criteria of NF1, and present a clinical case from their practice. The paper analyzes the research findings in recent publications, focused on the studied issue using the methods of continuous sampling, synthesis and generalization, bibliosemantic evaluation and content analysis. In order to attract the attention of family physicians, neurologists, dermatologists, ophthalmologists, surgeons and other specialists, we present our own clinical observation of NF1. The patient was examined using the methods of neurological examination, as well as other laboratory and instrumental methods of research. Early diagnosis and medical examination of patients with NF1 is crucial for predicting and improving the quality of life of patients. NF1 is a complex disease where the cooperation of doctors of different specialties is important. A favorable prognosis for patients is associated with the possibility of early diagnosis of malignant transformation and timely treatment.