Case of Neurofibromatosis Type I With Astrocytoma of the Brain in the Practice of Pediatrician

Abstract

The relevance of the topic is due to insufficient awareness of doctors about neurofibromatosis, which leads to a delay in diagnosis and the development of complications. The diagnostic criteria characteristic of this disease, features of the clinical course, possible complications, methods of treatment, features of dispensary observation are described. A clinical case of neurofibromatosis type I with astrocytoma of the brain is described. The diagnosis of neurofibromatosis type I (NFI) was established in a patient aged 4 years 3 months. The peculiarity of the manifestations of this clinical case is the absence of family history; the combination of cutaneous manifestations, multiple lesions of the nervous system, complicated by chronic subdural hematoma, endocrine disorders and extra-cutaneous manifestations (eye symptoms, hearing and speech disorders); the absence of significant positive dynamics despite repeated surgical treatment and long-term polyochemotherapy. Despite the stabilization of clinical manifestations of the disease, this patient has an unfavorable prognosis with possible progression of the pathological process. For early clinical detection of patients with NFI, using for this purpose diagnostic criteria recommended by the International Committee of experts on neurofibromatosis, continuity of management and adequate measures of primary and secondary prevention of complications of NFI is important knowledge of this pathology by primary health care physicians, including pediatricians, district and family doctors, neurologists, dermatologists, ophthalmologists and surgeons.