A case of familial neurofibromatosis in pediatric practice

Abstract

The article describes a clinical case of familial neurofibromatosis. Neurofibromatosis type 1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or more neurofibromas and neurofibromatosis type 1 and type 2 in the first-degree relatives. The particulars of the clinical case include the absence of any skin manifestations and an unfavorable prognosis. High awareness of this disorder among primary care physicians, including pediatricians, generalists and family doctors, neurologists, dermatologists, ophthalmologists and surgeons, is necessary for early clinical identification of neurofibromatosis type 1 patients and their regular clinical monitoring, continuity of management and implementation of adequate measures of primary and secondary prevention of its complications.

Keywords

• neurofibromatosis
• children
• diagnostics