Neurofibromatosis: Review and Reflection

Introduction: Neurofibromatosis consists of a group of genetic diseases, of autosomal dominant inheritance, with a predisposition for the growth of multiple tumors. Clinically, it is characterized by the presence of cutaneous manifestations and neural tumors, presenting, in most cases, a heterogeneous phenotype and a progressive and unpredictable natural evolution.

Objective: This work´s main purpose is to characterize patients with Neurofibromatosis being followed up in a tertiary hospital.

Methodology: Retrospective analysis of the clinical processes of patients diagnosed with Neurofibromatosis between 1991 and 2018. The following were analyzed: gender, age, family history, clinical manifestations and mortality.

Results: 64 patients were included, 36 male, with an average age of 15 years old. 23% of patients had a positive family history. All patients had cutaneous manifestations, including cafe au lait spots, neurofibromas or freckles. Neoplasms were also very common, occurring in 69% of patients, especially gliomas of the optic pathway. Hearing / visual changes occurred in 66% of patients and cognitive / behavioral changes, including cognitive impairment, developmental delay and ADHD in 48% of patients. Other frequent clinical manifestations included oral manifestations (27%) and seizures (14%), while testicular changes (6%), hypertension (5%) and endocrinological manifestations (3%) were found uncommon. Five of the patients who were followed up in our hospital died.

Discussion: The multiple associated clinical manifestations, as well as the difficulty in predicting complications and the severity of the disease make the follow-up of a patient with Neurofibromatosis a real challenge. In this review, the high frequency of neoplasms is highlighted, since our hospital is a reference center for Pediatric Oncology. Thus, the need for multidisciplinary teams to dedicate
themselves to treatment, genetic counseling and improving the quality of life of these patients is crucial.