Neurofibromatosis type 1 in Brazil: Pediatric care in the Unified Health System

To describe the demographic characteristics and outpatient and inpatient procedures experienced by pediatric patients with neurofibromatosis type 1 (NF1) in the Unified Health System (SUS).

This was an observational and retrospective study using administrative data from the Brazilian Outpatient Information System (SIA/SUS) and Inpatient Information System (SIH/SUS), covering the period from January 2008 to August 2024. Patients with a diagnosis code of ICD Q85.0 before the age of 18 were included. Demographic variables, comorbidities, and procedures were analyzed using a descriptive approach.

A total of 3748 patients with outpatient records and 1262 inpatient admissions were identified. The mean age was 9.7 years, with a slight male predominance (53%). There was a significant increase in the number of visits over time, especially in the Southeast and South regions. The highest proportion of SUS-recorded pediatric NF1 cases per 10,000 pediatric inhabitants was recorded in the Federal District (4.22) and the lowest in Sergipe (0.10). The most common outpatient procedures were diagnostic, with emphasis on magnetic resonance imaging and cranial tomography. In a hospital setting, 9.5% of hospitalizations required intensive care. In the Intensive Care Unit (ICU), lethality rate varied from 0 to 4.4%.

Although rare, NF1 represents a high-complexity condition within SUS, with a substantial demand for specialized resources, particularly among pediatric patients. The high frequency of comorbidities and frequent need for ICU admissions highlight the clinical and healthcare burden of the disease. These findings underscore the need for public health strategies to promote early diagnosis, improve health information systems, and expand access to specialized care centers in order to reduce regional disparities and enhance comprehensive care for patients with NF1.